C2608084[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17646	NM_000494.4(COL17A1):c.4045dup (p.Ala1349fs)	COL17A1 (A1349fs)	Duplication (frameshift variant)	Epidermolysis bullosa, junctional 4, intermediate	GPathogenic
Select item 17650	NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)	COL17A1 (R1303Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 17653	NM_000494.4(COL17A1):c.3899_3900del (p.Ser1300fs)	COL17A1 (S1300fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 4, intermediate	GPathogenic
Select item 17645	NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter)	COL17A1 (R1226*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 17648	NM_000494.4(COL17A1):c.3067C>T (p.Gln1023Ter)	COL17A1 (Q1023*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 4, intermediate	GPathogenic
Select item 17655	NM_000494.4(COL17A1):c.2861del (p.Gly954fs)	COL17A1 (G954fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 4, intermediate	GPathogenic
Select item 17647	NM_000494.4(COL17A1):c.2840_2844del (p.Leu947fs)	COL17A1 (L947fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 4, intermediate	GPathogenic
Select item 17656	NM_000494.4(COL17A1):c.2564T>G (p.Leu855Ter)	COL17A1 (L855*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 4, intermediate	GPathogenic
Select item 298713	NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter)	COL17A1 (G803*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GPathogenic
Select item 17652	NM_000494.4(COL17A1):c.2336-1G>T	COL17A1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa, junctional 4, intermediate	GPathogenic
Select item 631624	NM_000494.4(COL17A1):c.2336-2A>G	COL17A1	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 17657	NM_000494.4(COL17A1):c.1898G>A (p.Gly633Asp)	COL17A1 (G633D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 4, intermediate	GPathogenic
Select item 17649	NM_000494.4(COL17A1):c.1601del (p.Asp534fs)	COL17A1 (D534fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 4, intermediate	GPathogenic
Select item 17658	NM_000494.4(COL17A1):c.433C>T (p.Arg145Ter)	COL17A1 (R145*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1691802	NM_000494.3(COL17A1):c.418_419del	COL17A1	Microsatellite	not provided	GPathogenic