C0268374[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065678	NM_000228.3(LAMB3):c.1598-1G>T	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 3065670	NM_000228.3(LAMB3):c.1482C>G (p.Asn494Lys)	LAMB3 (N494K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 2094416	NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)	LAMB3 (W470*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3065544	NM_000228.3(LAMB3):c.972_973del (p.Cys325fs)	LAMB3 (C325fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 419270	NM_000494.4(COL17A1):c.3922del (p.Ser1308fs)	COL17A1 (S1308fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 4, intermediate +1 more	GPathogenic/Likely pathogenic
Select item 623160	NM_000494.4(COL17A1):c.3418+2del	COL17A1	Deletion (splice donor variant)	not provided +3 more	GLikely pathogenic

ClinVar