"GeneDx"[submitter] AND "LAMB2"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258615	NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr)	LAMB2 (A1765T)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +4 more	GBenign/Likely benign
Select item 1199749	NM_002292.4(LAMB2):c.5261-27C>G	LAMB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300956	NM_002292.4(LAMB2):c.5260+34G>A	LAMB2	Single nucleotide variant (intron variant)	not provided	GLikely 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 1218980	NM_002292.4(LAMB2):c.4924-35G>A	LAMB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258614	NM_002292.4(LAMB2):c.4923+17A>G	LAMB2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1686687	NM_002292.4(LAMB2):c.4822C>T (p.Gln1608Ter)	LAMB2 (Q1608*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 258612	NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp)	LAMB2 (R1592W)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +4 more	GBenign/Likely benign
Select item 451720	NM_002292.4(LAMB2):c.4611_4621del (p.Thr1538fs)	LAMB2 (T1538fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 449551	NM_002292.4(LAMB2):c.4573+1G>A	LAMB2	Single nucleotide variant (splice donor variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 450393	NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln)	LAMB2 (R1457Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +3 more	GBenign/Likely 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 345979	NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GBenign/Likely benign
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 472484	NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly)	LAMB2 (D1373G)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1379453	NM_002292.4(LAMB2):c.4094G>A (p.Arg1365Gln)	LAMB2 (R1365Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 539743	NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 472476	NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His)	LAMB2 (R1148H)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GBenign
Select item 258608	NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=)	LAMB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1204381	NM_002292.4(LAMB2):c.3328-36T>G	LAMB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261518	NM_002292.4(LAMB2):c.3327+28T>C	LAMB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 902020	NM_002292.4(LAMB2):c.3110-15T>C	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +2 more	GBenign/Likely benign
Select item 258606	NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys)	LAMB2 (E987K)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +3 more	GBenign
Select item 258605	NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg)	LAMB2 (G914R)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +4 more	GBenign
Select item 258604	NM_002292.4(LAMB2):c.2673C>T (p.Gly891=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +4 more	GBenign/Likely benign
Select item 586112	NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile)	LAMB2 (T890I)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1218791	NM_002292.4(LAMB2):c.2152-36G>A	LAMB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 703419	NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg)	LAMB2 (G699R)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GBenign/Likely benign
Select item 900474	NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp)	LAMB2 (R697W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1707288	NM_002292.4(LAMB2):c.2018+95C>T	LAMB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700503	NM_002292.4(LAMB2):c.1981G>A (p.Asp661Asn)	LAMB2 (D661N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723661	NM_002292.4(LAMB2):c.1937G>A (p.Gly646Glu)	LAMB2 (G646E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1248793	NM_002292.4(LAMB2):c.1890+25G>A	LAMB2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 848378	NM_002292.4(LAMB2):c.1477del (p.Cys493fs)	LAMB2 (C493fs)	Deletion (frameshift variant)	LAMB2-related disorder +3 more	GPathogenic
Select item 3373456	NM_002292.4(LAMB2):c.1239C>A (p.Asp413Glu)	LAMB2 (D413E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258595	NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile)	LAMB2 (T398I)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +4 more	GBenign/Likely benign
Select item 843079	NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser)	LAMB2 (G339S)	Single nucleotide variant (missense variant)	Diffuse mesangial sclerosis +3 more	GUncertain significance
Select item 982086	NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)	LAMB2 (C324R)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 391807	NM_002292.4(LAMB2):c.934T>C (p.Cys312Arg)	LAMB2 (C312R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026941	NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly)	LAMB2 (E291G)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 1308692	NM_002292.4(LAMB2):c.800G>A (p.Arg267Gln)	LAMB2 (R267Q)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 705738	NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp)	LAMB2 (R235W)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 571822	NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys)	LAMB2 (E216K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 258607	NM_002292.4(LAMB2):c.306C>T (p.Asn102=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +4 more	GBenign/Likely benign
Select item 704005	NM_002292.4(LAMB2):c.261G>A (p.Lys87=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GBenign/Likely benign
Select item 663062	NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn)	LAMB2 (K87N)	Single nucleotide variant (missense variant)	Pierson syndrome +3 more	GUncertain significance
Select item 623146	NM_002292.4(LAMB2):c.249+1G>A	LAMB2	Single nucleotide variant (splice donor variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 472468	NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)	LAMB2 (P37A)	Single nucleotide variant (missense variant)	Pierson syndrome +3 more	GBenign/Likely benign
Select item 346014	NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp)	LAMB2 (A34D)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1197594	NC_000003.12:g.49133424C>T	LAMB2	Single nucleotide variant	not provided	GLikely benign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 52