C3280402[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282957	NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)	LRP4, LRP4-AS1 (S1887C)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1331494	NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter)	LRP4, LRP4-AS1 (R1885*)	Single nucleotide variant (nonsense)	not specified +3 more	GUncertain significance
Select item 304845	NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly)	LRP4, LRP4-AS1 (R1884G)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 839461	NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile)	LRP4-AS1, LRP4 (V1876I)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1501503	NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met)	LRP4, LRP4-AS1 (T1862M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 535809	NM_002334.4(LRP4):c.5556C>T (p.Ala1852=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 1469424	NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile)	LRP4, LRP4-AS1 (V1810I)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 582866	NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del)	LRP4, LRP4-AS1 (K1806del)	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 651771	NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr)	LRP4, LRP4-AS1 (K1793T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1521778	NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala)	LRP4, LRP4-AS1 (G1729A)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 642930	NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val)	LRP4, LRP4-AS1 (A1713V)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 1392597	NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser)	LRP4, LRP4-AS1 (N1711S)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 657674	NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro)	LRP4, LRP4-AS1 (R1709P)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1638178	NM_002334.4(LRP4):c.5088-20C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 569474	NM_002334.4(LRP4):c.4990A>G (p.Met1664Val)	LRP4, LRP4-AS1 (M1664V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1601185	NM_002334.4(LRP4):c.4951+13G>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 304851	NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu)	LRP4, LRP4-AS1 (P1643L)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 846793	NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln)	LRP4, LRP4-AS1 (R1610Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 708892	NM_002334.4(LRP4):c.4812C>T (p.Ile1604=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1417561	NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys)	LRP4, LRP4-AS1 (N1589K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1375091	NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp)	LRP4, LRP4-AS1 (R1588W)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
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 304856	NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln)	LRP4, LRP4-AS1 (R1549Q)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 856623	NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu)	LRP4, LRP4-AS1 (V1532L)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 1109492	NM_002334.4(LRP4):c.4584-4G>A	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1542190	NM_002334.4(LRP4):c.4584-15T>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
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 467789	NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln)	LRP4, LRP4-AS1 (R1498Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304859	NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser)	LRP4, LRP4-AS1 (N1467S)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1063885	NM_002334.4(LRP4):c.4385G>A (p.Arg1462His)	LRP4, LRP4-AS1 (R1462H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1524835	NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe)	LRP4, LRP4-AS1 (S1460F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304862	NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln)	LRP4, LRP4-AS1 (R1425Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 872376	NM_002334.4(LRP4):c.4183G>A (p.Val1395Met)	LRP4 (V1395M)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +4 more	GUncertain significance
Select item 581226	NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser)	LRP4 (N1385S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 834658	NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala)	LRP4 (E1383A)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 573237	NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser)	LRP4 (P1382S)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 707732	NM_002334.4(LRP4):c.4110C>T (p.Asp1370=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 879523	NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln)	LRP4 (R1365Q)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 502488	NM_002334.4(LRP4):c.4075T>A (p.Ser1359Thr)	LRP4 (S1359T)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 196124	NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln)	LRP4 (R1327Q)	Single nucleotide variant (missense variant)	LRP4-related disorder +4 more	GUncertain significance
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 1565907	NM_002334.4(LRP4):c.3939C>T (p.Cys1313=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 1360320	NM_002334.4(LRP4):c.3925+3G>A	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 467788	NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser)	LRP4 (P1307S)	Single nucleotide variant (missense variant)	LRP4-related disorder +3 more	GUncertain significance
Select item 1349176	NM_002334.4(LRP4):c.3895A>G (p.Met1299Val)	LRP4 (M1299V)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 653192	NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg)	LRP4 (K1280R)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 304866	NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu)	LRP4 (P1251L)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +4 more	GUncertain significance
Select item 1382323	NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln)	LRP4 (R1234Q)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 304868	NM_002334.4(LRP4):c.3699+5G>C	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1404116	NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr)	LRP4 (A1203T)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1523316	NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu)	LRP4 (S1200L)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GUncertain significance
Select item 1666427	NM_002334.4(LRP4):c.3585C>T (p.Ser1195=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 575815	NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln)	LRP4 (R1194Q)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 1447911	NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu)	LRP4 (D1185E)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 1501859	NM_002334.4(LRP4):c.3537G>T (p.Gly1179=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1017329	NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln)	LRP4 (R1158Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 706577	NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1134688	NM_002334.4(LRP4):c.3384G>A (p.Gly1128=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1538963	NM_002334.4(LRP4):c.3278-8C>T	LRP4	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 1380303	NM_002334.4(LRP4):c.3277+5G>T	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1589270	NM_002334.4(LRP4):c.3267C>T (p.Asp1089=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 720529	NM_002334.4(LRP4):c.3195C>T (p.Asp1065=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 859974	NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser)	LRP4 (P1023S)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1356491	NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val)	LRP4 (G1012V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1635053	NM_002334.4(LRP4):c.3004+18C>T	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1516189	NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys)	LRP4 (R998C)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
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 960276	NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp)	LRP4 (R979W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1042526	NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp)	LRP4 (R973W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
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 1415683	NM_002334.4(LRP4):c.2747G>A (p.Arg916His)	LRP4 (R916H)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 535801	NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys)	LRP4 (R916C)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 582578	NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu)	LRP4 (G913E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 878116	NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp)	LRP4 (G870D)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 1370059	NM_002334.4(LRP4):c.2593G>A (p.Val865Met)	LRP4 (V865M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 1575416	NM_002334.4(LRP4):c.2506+17C>T	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign
Select item 779802	NM_002334.4(LRP4):c.2436T>C (p.Asp812=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	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 1538578	NM_002334.4(LRP4):c.2424+13G>A	LRP4	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 878119	NM_002334.4(LRP4):c.2374G>A (p.Val792Ile)	LRP4 (V792I)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 958431	NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln)	LRP4 (R748Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1650660	NM_002334.4(LRP4):c.2216-14C>T	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 1373891	NM_002334.4(LRP4):c.2129C>T (p.Thr710Met)	LRP4 (T710M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1460952	NM_002334.4(LRP4):c.2010G>A (p.Thr670=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 660225	NM_002334.4(LRP4):c.2009C>T (p.Thr670Met)	LRP4 (T670M)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1158052	NM_002334.4(LRP4):c.1815C>T (p.Ile605=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
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 1638980	NM_002334.4(LRP4):c.1707C>T (p.Tyr569=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely 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 1179057	NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter)	LRP4 (W520*)	Single nucleotide variant (nonsense)	Cenani-Lenz syndactyly syndrome +2 more	GLikely pathogenic
Select item 1386288	NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg)	LRP4 (P513R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +3 more	GUncertain significance
Select item 654024	NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys)	LRP4 (E504K)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 879933	NM_002334.4(LRP4):c.1492A>C (p.Asn498His)	LRP4 (N498H)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 304887	NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys)	LRP4 (R494C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 949097	NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln)	LRP4 (E480Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 304888	NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys)	LRP4 (R479C)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 1009260	NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys)	LRP4 (R478C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 656081	NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys)	LRP4 (R457C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance

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