C1836876[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210227	NM_002292.4(LAMB2):c.3937C>T (p.Gln1313Ter)	LAMB2 (Q1313*)	Single nucleotide variant (nonsense)	Nephrotic syndrome +1 more	GLikely pathogenic
Select item 505117	NM_002292.4(LAMB2):c.3109+1G>T	LAMB2	Single nucleotide variant (splice donor variant)	Pierson syndrome	GLikely pathogenic