"Biomedical Innovation Departament, CIEMAT"[submitter] AND "COL17A1"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047994	NM_000494.4(COL17A1):c.4156+1G>A	COL17A1	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa +1 more	GPathogenic
Select item 1047993	NM_000494.4(COL17A1):c.3828_3829insC (p.Gly1277fs)	COL17A1 (G1277fs)	Insertion (frameshift variant)	Junctional epidermolysis bullosa	GPathogenic
Select item 1047967	NM_000494.4(COL17A1):c.3827dup (p.Gly1277fs)	COL17A1 (G1277fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa	GPathogenic
Select item 1047966	NM_000494.4(COL17A1):c.3766+1G>A	COL17A1	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa +1 more	GPathogenic/Likely pathogenic
Select item 17645	NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter)	COL17A1 (R1226*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 4, intermediate +2 more	GPathogenic
Select item 1047965	NM_000494.4(COL17A1):c.2596G>A (p.Gly866Arg)	COL17A1 (G866R)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa	GPathogenic
Select item 1047964	NM_000494.4(COL17A1):c.2576dup (p.Gly860fs)	COL17A1 (G860fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa	GPathogenic
Select item 497145	NM_000494.4(COL17A1):c.2228-3_2235delinsTTG	MIR936, COL17A1	Indel (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1047963	NM_000494.4(COL17A1):c.1571_1572dup (p.Gln525fs)	COL17A1 (Q525fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa	GPathogenic