"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "COL17A1"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663968	NM_000494.4(COL17A1):c.4156+2_4156+3insTT	COL17A1	Insertion (splice donor variant)	Epidermolysis bullosa, junctional 4, intermediate	GLikely pathogenic
Select item 1339112	NM_000494.4(COL17A1):c.3595G>T (p.Glu1199Ter)	COL17A1 (E1199*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 3234877	NM_000494.4(COL17A1):c.2648-1_2648insAGAGAGCAAACCCCAC	COL17A1	Insertion (splice acceptor variant)	Epidermolysis bullosa, junctional 4, intermediate	GLikely pathogenic
Select item 1322107	NM_000494.4(COL17A1):c.1939+1G>C	COL17A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1339211	NM_000494.4(COL17A1):c.509C>A (p.Ser170Ter)	COL17A1 (S170*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 2627501	NM_000494.4(COL17A1):c.464-2A>G	COL17A1	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 585309	NM_000494.4(COL17A1):c.214C>T (p.Arg72Ter)	COL17A1 (R72*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar