C0268374[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495739	NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr)	LAMB3 (C316Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2442345	NM_000228.3(LAMB3):c.891C>G (p.Tyr297Ter)	LAMB3 (Y297*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic