"PreventionGenetics, part of Exact Sciences"[submitter] AND "LAMB2"[ge - ClinVar

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Items: 69

	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)	Pierson syndrome +4 more	GBenign/Likely benign
Select item 2634128	NM_002292.4(LAMB2):c.5182C>T (p.Gln1728Ter)	LAMB2 (Q1728*)	Single nucleotide variant (nonsense)	LAMB2-related condition	GPathogenic
Select item 707650	NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 705704	NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition +2 more	GLikely benign
Select item 345973	NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val)	LAMB2 (A1680V)	Single nucleotide variant (missense variant)	Pierson syndrome +4 more	GUncertain significance
Select item 258614	NM_002292.4(LAMB2):c.4923+17A>G	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +3 more	GBenign/Likely benign
Select item 2636231	NM_002292.4(LAMB2):c.4907_4908del (p.Glu1636fs)	LAMB2 (E1636fs)	Microsatellite (frameshift variant)	LAMB2-related condition	GLikely pathogenic
Select item 258613	NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=)	LAMB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 258612	NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp)	LAMB2 (R1592W)	Single nucleotide variant (missense variant)	Pierson syndrome +4 more	GBenign/Likely benign
Select item 2636172	NM_002292.4(LAMB2):c.4766A>C (p.Asp1589Ala)	LAMB2 (D1589A)	Single nucleotide variant (missense variant)	LAMB2-related condition	GUncertain significance
Select item 1712386	NM_002292.4(LAMB2):c.4759C>T (p.Leu1587=)	LAMB2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 1301636	NM_002292.4(LAMB2):c.4667C>T (p.Ala1556Val)	LAMB2 (A1556V)	Single nucleotide variant (missense variant)	LAMB2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 574422	NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu)	LAMB2 (P1435L)	Single nucleotide variant (missense variant)	LAMB2-related condition +3 more	GUncertain significance
Select item 3045831	NM_002292.4(LAMB2):c.4296T>C (p.Asp1432=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition	GLikely benign
Select item 706746	NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition +2 more	GLikely benign
Select item 258611	NM_002292.4(LAMB2):c.4224+19G>A	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +3 more	GBenign
Select item 472485	NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln)	LAMB2 (R1388Q)	Single nucleotide variant (missense variant)	Pierson syndrome +3 more	GBenign/Likely benign
Select item 472484	NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly)	LAMB2 (D1373G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 258610	NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His)	LAMB2 (R1345H)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GBenign
Select item 472483	NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile)	LAMB2 (N1292I)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GLikely benign
Select item 1145698	NM_002292.4(LAMB2):c.3797+4C>T	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +3 more	GConflicting classifications of pathogenicity
Select item 654751	NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val)	LAMB2 (L1258V)	Single nucleotide variant (missense variant)	LAMB2-related condition +2 more	GUncertain significance
Select item 258609	NM_002292.4(LAMB2):c.3732C>T (p.Ile1244=)	LAMB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1460601	NM_002292.4(LAMB2):c.3641G>A (p.Arg1214Gln)	LAMB2 (R1214Q)	Single nucleotide variant (missense variant)	LAMB2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1323182	NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter)	LAMB2 (R1199*)	Single nucleotide variant (nonsense)	LAMB2-related condition +3 more	GPathogenic
Select item 900289	NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 258608	NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +3 more	GBenign
Select item 3032677	NM_002292.4(LAMB2):c.3354C>T (p.Ala1118=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition	GLikely benign
Select item 705649	NM_002292.4(LAMB2):c.2975T>C (p.Ile992Thr)	LAMB2 (I992T)	Single nucleotide variant (missense variant)	LAMB2-related condition +2 more	GLikely benign
Select item 258606	NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys)	LAMB2 (E987K)	Single nucleotide variant (missense variant)	Pierson syndrome +3 more	GBenign
Select item 577310	NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln)	LAMB2 (R982Q)	Single nucleotide variant (missense variant)	LAMB2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 345994	NM_002292.4(LAMB2):c.2922G>C (p.Gly974=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1944034	NM_002292.4(LAMB2):c.2766C>T (p.Gly922=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GLikely benign
Select item 258605	NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg)	LAMB2 (G914R)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GBenign
Select item 258604	NM_002292.4(LAMB2):c.2673C>T (p.Gly891=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson 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)	LAMB2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 705972	NM_002292.4(LAMB2):c.2505C>T (p.His835=)	LAMB2, LOC129936738	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GBenign/Likely benign
Select item 933413	NM_002292.4(LAMB2):c.2488+6C>G	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2072542	NM_002292.4(LAMB2):c.2322C>T (p.Thr774=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GLikely benign
Select item 346000	NM_002292.4(LAMB2):c.2322C>G (p.Thr774=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 258603	NM_002292.4(LAMB2):c.2307C>T (p.Leu769=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 258602	NM_002292.4(LAMB2):c.2152C>T (p.Leu718=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 706599	NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu)	LAMB2 (G700E)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3029144	NM_002292.4(LAMB2):c.1891-4C>A	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related condition	GLikely benign
Select item 258601	NM_002292.4(LAMB2):c.1891-11C>T	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +2 more	GLikely benign
Select item 1425731	NM_002292.4(LAMB2):c.1802G>A (p.Arg601Gln)	LAMB2 (R601Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 258600	NM_002292.4(LAMB2):c.1764C>T (p.Pro588=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +4 more	GBenign
Select item 258599	NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln)	LAMB2 (R575Q)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GBenign/Likely benign
Select item 258598	NM_002292.4(LAMB2):c.1572C>T (p.Cys524=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GLikely benign
Select item 2191505	NM_002292.4(LAMB2):c.1519-7C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related condition +2 more	GLikely benign
Select item 848378	NM_002292.4(LAMB2):c.1477del (p.Cys493fs)	LAMB2 (C493fs)	Deletion (frameshift variant)	LAMB2-related condition +2 more	GPathogenic
Select item 706428	NM_002292.4(LAMB2):c.1422A>C (p.Ala474=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GLikely benign
Select item 717717	NM_002292.4(LAMB2):c.1391G>A (p.Arg464His)	LAMB2 (R464H)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1375456	NM_002292.4(LAMB2):c.1327C>T (p.His443Tyr)	LAMB2 (H443Y)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 546936	NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser)	LAMB2 (G436S)	Single nucleotide variant (missense variant)	Pierson syndrome +3 more	GConflicting classifications of pathogenicity
Select item 258597	NM_002292.4(LAMB2):c.1291C>T (p.Leu431=)	LAMB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 704823	NM_002292.4(LAMB2):c.1226-5G>A	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +2 more	GBenign/Likely benign
Select item 3037621	NM_002292.4(LAMB2):c.1226-8G>C	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related condition	GLikely benign
Select item 258596	NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)	LAMB2	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 258595	NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile)	LAMB2 (T398I)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GBenign/Likely benign
Select item 1577994	NM_002292.4(LAMB2):c.1068C>T (p.Cys356=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition +2 more	GLikely benign
Select item 3061448	NM_002292.4(LAMB2):c.726C>T (p.Ile242=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related condition	GLikely benign
Select item 705738	NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp)	LAMB2 (R235W)	Single nucleotide variant (missense variant)	LAMB2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 981942	NM_002292.4(LAMB2):c.350C>G (p.Pro117Arg)	LAMB2 (P117R)	Single nucleotide variant (missense variant)	LAMB2-related condition	GUncertain significance
Select item 258607	NM_002292.4(LAMB2):c.306C>T (p.Asn102=)	LAMB2	Single nucleotide variant (synonymous variant)	Kidney disorder +4 more	GBenign/Likely benign
Select item 472468	NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)	LAMB2 (P37A)	Single nucleotide variant (missense variant)	not specified +4 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 +3 more	GConflicting classifications of pathogenicity
Select item 1117714	NM_002292.4(LAMB2):c.77-9T>C	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GLikely benign
Select item 775007	NM_002292.4(LAMB2):c.76+10C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related condition +2 more	GConflicting classifications of pathogenicity

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Items: 69