"Athena Diagnostics"[submitter] AND "LAMB2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 345974	NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val)	LAMB2 (G1676V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 345975	NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg)	LAMB2 (G1676R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 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 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 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 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 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 447697	NM_002292.4(LAMB2):c.1599-1G>T	LAMB2	Single nucleotide variant (splice acceptor variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GLikely pathogenic
Select item 258596	NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +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)	LAMB2-related infantile-onset nephrotic syndrome +4 more	GBenign/Likely benign
Select item 935194	NM_002292.4(LAMB2):c.598G>A (p.Val200Ile)	LAMB2 (V200I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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