"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COL17A1"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298683	NM_000494.4(COL17A1):c.4304C>T (p.Ala1435Val)	COL17A1 (A1435V)	Single nucleotide variant (missense variant)	COL17A1-related condition +2 more	GBenign/Likely benign
Select item 298698	NM_000494.4(COL17A1):c.3213G>A (p.Ser1071=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298706	NM_000494.4(COL17A1):c.2715C>T (p.Ser905=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 298718	NM_000494.4(COL17A1):c.2128+8A>C	COL17A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 298724	NM_000494.4(COL17A1):c.1761T>C (p.Pro587=)	COL17A1, LOC126861025	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2570774	NM_000494.4(COL17A1):c.1750C>T (p.Arg584Ter)	COL17A1, LOC126861025 (R584*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 298729	NM_000494.4(COL17A1):c.1590G>A (p.Ala530=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 298737	NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser)	COL17A1 (G446S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 4, intermediate +4 more	GBenign/Likely benign
Select item 298739	NM_000494.4(COL17A1):c.1306G>A (p.Gly436Arg)	COL17A1 (G436R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1176267	NM_000494.4(COL17A1):c.696G>T (p.Gly232=)	COL17A1	Single nucleotide variant (synonymous variant)	COL17A1-related condition +1 more	GBenign/Likely benign