"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "LAMB2"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627423	NM_002292.4(LAMB2):c.5332G>C (p.Ala1778Pro)	LAMB2 (A1778P)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome	GUncertain significance
Select item 2585397	NM_002292.4(LAMB2):c.4882dup (p.Ala1628fs)	LAMB2 (A1628fs)	Duplication (frameshift variant)	Pierson syndrome	GLikely pathogenic
Select item 2585178	NM_002292.4(LAMB2):c.4435G>T (p.Glu1479Ter)	LAMB2 (E1479*)	Single nucleotide variant (nonsense)	LAMB2-related infantile-onset nephrotic syndrome	GLikely pathogenic
Select item 2664224	NM_002292.4(LAMB2):c.3403G>C (p.Asp1135His)	LAMB2 (D1135H)	Single nucleotide variant (missense variant)	Pierson syndrome	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 1068372	NM_002292.4(LAMB2):c.3109+1G>A	LAMB2	Single nucleotide variant (splice donor variant)	Pierson syndrome +1 more	GLikely pathogenic
Select item 3362373	NM_002292.4(LAMB2):c.2833C>T (p.Gln945Ter)	LAMB2 (Q945*)	Single nucleotide variant (nonsense)	Pierson syndrome	GUncertain significance
Select item 2664216	NM_002292.4(LAMB2):c.2700_2701del (p.Gly901_Gly902insTer)	LAMB2	Deletion (frameshift variant)	Pierson syndrome	GLikely pathogenic

ClinVar