C3280113[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 345970	NM_002292.4(LAMB2):c.*92A>G	LAMB2	Single nucleotide variant (3 prime UTR variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 444602	NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met)	LAMB2 (I1793M)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +3 more	GUncertain significance
Select item 705704	NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=)	LAMB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 472492	NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=)	LAMB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 345973	NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val)	LAMB2 (A1680V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 901336	NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr)	LAMB2 (A1652T)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1505351	NM_002292.4(LAMB2):c.4897C>T (p.Arg1633Trp)	LAMB2 (R1633W)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 639510	NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln)	LAMB2 (R1626Q)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1097991	NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 1169247	NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GBenign/Likely benign
Select item 1054976	NM_002292.4(LAMB2):c.4742G>A (p.Arg1581His)	LAMB2 (R1581H)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 955803	NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val)	LAMB2 (A1571V)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 645553	NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile)	LAMB2 (S1565I)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1210226	NM_002292.4(LAMB2):c.4573+5G>A	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +2 more	GUncertain significance
Select item 472486	NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg)	LAMB2 (K1520R)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 1491928	NM_002292.4(LAMB2):c.4469G>A (p.Arg1490Gln)	LAMB2 (R1490Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 1421435	NM_002292.4(LAMB2):c.4438A>G (p.Thr1480Ala)	LAMB2 (T1480A)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1085117	NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 1041002	NM_002292.4(LAMB2):c.4337C>T (p.Ala1446Val)	LAMB2 (A1446V)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1448804	NM_002292.4(LAMB2):c.4323C>G (p.Ser1441Arg)	LAMB2 (S1441R)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 930193	NM_002292.4(LAMB2):c.4307G>A (p.Arg1436His)	LAMB2 (R1436H)	Single nucleotide variant (missense variant)	Glomerulonephritis +2 more	GUncertain significance
Select item 1410518	NM_002292.4(LAMB2):c.4306C>T (p.Arg1436Cys)	LAMB2 (R1436C)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1537007	NM_002292.4(LAMB2):c.4305G>A (p.Pro1435=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GLikely benign
Select item 568997	NM_002292.4(LAMB2):c.4274G>C (p.Gly1425Ala)	LAMB2 (G1425A)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 706746	NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 258611	NM_002292.4(LAMB2):c.4224+19G>A	LAMB2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 902789	NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln)	LAMB2 (H1383Q)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 652981	NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg)	LAMB2 (H1383R)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 242783	NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys)	LAMB2 (N1380K)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1399805	NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg)	LAMB2 (H1366R)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 1106922	NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 1421194	NM_002292.4(LAMB2):c.4060G>A (p.Val1354Ile)	LAMB2 (V1354I)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 345981	NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser)	LAMB2 (N1348S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1430301	NM_002292.4(LAMB2):c.4037G>A (p.Arg1346His)	LAMB2 (R1346H)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 472482	NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +3 more	GBenign/Likely benign
Select item 1644978	NM_002292.4(LAMB2):c.3826C>T (p.Leu1276=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 586113	NM_002292.4(LAMB2):c.3811G>A (p.Glu1271Lys)	LAMB2 (E1271K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1599818	NM_002292.4(LAMB2):c.3798-16del	LAMB2	Deletion (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GBenign/Likely benign
Select item 1581823	NM_002292.4(LAMB2):c.3798-17C>G	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 472481	NM_002292.4(LAMB2):c.3797+5G>A	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 654751	NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val)	LAMB2 (L1258V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 472480	NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala)	LAMB2 (T1255A)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 472479	NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr)	LAMB2 (A1253T)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 1487599	NM_002292.4(LAMB2):c.3718A>G (p.Ile1240Val)	LAMB2 (I1240V)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 345985	NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly)	LAMB2 (A1215G)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1401286	NM_002292.4(LAMB2):c.3617C>T (p.Ala1206Val)	LAMB2 (A1206V)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 1466205	NM_002292.4(LAMB2):c.3596G>A (p.Arg1199Gln)	LAMB2 (R1199Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 447698	NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His)	LAMB2 (R1157H)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +3 more	GUncertain significance
Select item 345987	NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser)	LAMB2 (G1119S)	Single nucleotide variant (missense variant)	Nephrotic syndrome +2 more	GUncertain significance
Select item 970554	NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu)	LAMB2 (P1074L)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 653721	NM_002292.4(LAMB2):c.3157_3159del (p.Pro1053del)	LAMB2 (P1053del)	Deletion (inframe_deletion)	Pierson syndrome +1 more	GUncertain significance
Select item 859155	NM_002292.4(LAMB2):c.3140C>T (p.Pro1047Leu)	LAMB2 (P1047L)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 472474	NM_002292.4(LAMB2):c.3109C>T (p.Arg1037Cys)	LAMB2 (R1037C)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 252603	NM_002292.4(LAMB2):c.3088G>A (p.Ala1030Thr)	LAMB2 (A1030T)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 962147	NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg)	LAMB2 (H1013R)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 649098	NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln)	LAMB2 (H1012Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1019223	NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr)	LAMB2 (M995T)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 994913	NM_002292.4(LAMB2):c.2983A>G (p.Met995Val)	LAMB2 (M995V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1043139	NM_002292.4(LAMB2):c.2961G>C (p.Glu987Asp)	LAMB2 (E987D)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 577310	NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln)	LAMB2 (R982Q)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 902910	NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln)	LAMB2 (R957Q)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1000358	NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val)	LAMB2 (E947V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 345996	NM_002292.4(LAMB2):c.2810G>A (p.Arg937Gln)	LAMB2 (R937Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 900355	NM_002292.4(LAMB2):c.2774G>A (p.Arg925Gln)	LAMB2 (R925Q)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 1015755	NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp)	LAMB2 (R925W)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1545735	NM_002292.4(LAMB2):c.2720+11A>G	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 643558	NM_002292.4(LAMB2):c.2660A>T (p.Asn887Ile)	LAMB2 (N887I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1417483	NM_002292.4(LAMB2):c.2644C>T (p.His882Tyr)	LAMB2 (H882Y)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 648085	NM_002292.4(LAMB2):c.2588G>A (p.Arg863His)	LAMB2, LOC129936738 (R863H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 855038	NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg)	LAMB2, LOC129936738 (S841R)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 705972	NM_002292.4(LAMB2):c.2505C>T (p.His835=)	LAMB2, LOC129936738	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GBenign/Likely benign
Select item 933413	NM_002292.4(LAMB2):c.2488+6C>G	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GUncertain significance
Select item 345998	NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe)	LAMB2 (Y820F)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 864389	NM_002292.4(LAMB2):c.2432G>A (p.Arg811His)	LAMB2 (R811H)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1653583	NM_002292.4(LAMB2):c.2344+14A>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 988162	NM_002292.4(LAMB2):c.2344C>T (p.Pro782Ser)	LAMB2 (P782S)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 648562	NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys)	LAMB2 (Y777C)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 902961	NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr)	LAMB2 (A766T)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1462051	NM_002292.4(LAMB2):c.2290G>A (p.Ala764Thr)	LAMB2 (A764T)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 576812	NM_002292.4(LAMB2):c.2271C>A (p.Ser757Arg)	LAMB2 (S757R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 472471	NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys)	LAMB2 (R746C)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 649895	NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys)	LAMB2 (R740C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1513161	NM_002292.4(LAMB2):c.2186T>A (p.Met729Lys)	LAMB2 (M729K)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 945280	NM_002292.4(LAMB2):c.2165C>A (p.Pro722His)	LAMB2 (P722H)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 951850	NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro)	LAMB2 (T698P)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1476808	NM_002292.4(LAMB2):c.2090G>A (p.Arg697Gln)	LAMB2 (R697Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 651471	NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu)	LAMB2 (F677L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1472099	NM_002292.4(LAMB2):c.1949C>A (p.Ala650Asp)	LAMB2 (A650D)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 577021	NM_002292.4(LAMB2):c.1931G>A (p.Arg644His)	LAMB2 (R644H)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 938783	NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys)	LAMB2 (R644C)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1612122	NM_002292.4(LAMB2):c.1890+19A>C	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 852849	NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu)	LAMB2 (P629L)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 959505	NM_002292.4(LAMB2):c.1882G>C (p.Glu628Gln)	LAMB2 (E628Q)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1371031	NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro)	LAMB2 (S597P)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 258600	NM_002292.4(LAMB2):c.1764C>T (p.Pro588=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +4 more	GBenign
Select item 940370	NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala)	LAMB2 (P588A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1407293	NM_002292.4(LAMB2):c.1750C>T (p.Arg584Cys)	LAMB2 (R584C)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 574006	NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser)	LAMB2 (R584S)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 1662258	NM_002292.4(LAMB2):c.1683G>T (p.Arg561=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 222684	NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln)	LAMB2 (R561Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +2 more	GUncertain significance

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