"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344739	NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter)	LAMB2 (Q1525*)	Single nucleotide variant (nonsense)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GPathogenic
Select item 1344733	NM_002292.4(LAMB2):c.4537C>T (p.Gln1513Ter)	LAMB2 (Q1513*)	Single nucleotide variant (nonsense)	Nephrotic syndrome	GLikely pathogenic
Select item 1344724	NM_002292.4(LAMB2):c.1731+1G>A	LAMB2	Single nucleotide variant (splice donor variant)	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 969386	NM_002292.4(LAMB2):c.395C>T (p.Ala132Val)	LAMB2 (A132V)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1344709	NM_002292.4(LAMB2):c.143A>C (p.Tyr48Ser)	LAMB2 (Y48S)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic

ClinVar