"Baylor Genetics"[submitter] AND "LAMB2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1029435	NM_002292.4(LAMB2):c.4099C>T (p.Arg1367Trp)	LAMB2 (R1367W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1032809	NM_002292.4(LAMB2):c.2344+1G>A	LAMB2	Single nucleotide variant (splice donor variant)	LAMB2-related infantile-onset nephrotic syndrome	GPathogenic
Select item 2582428	NM_002292.4(LAMB2):c.1598+2T>C	LAMB2	Single nucleotide variant (splice donor variant)	LAMB2-related infantile-onset nephrotic syndrome	GLikely pathogenic
Select item 14530	NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)	LAMB2 (R246W)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 346012	NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys)	LAMB2 (E85K)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic