Related gene-specific medical variations for Gene (Select 1308) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244951	NC_000010.10:g.(?_105803239)_(105805571_?)del	COL17A1	Deletion	not provided	GPathogenic
Select item 3065548	NM_000494.4(COL17A1):c.1717+2T>C	COL17A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 4, intermediate	GUncertain significance
Select item 3065249	NM_000494.4(COL17A1):c.2068G>T (p.Glu690Ter)	COL17A1 (E690*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 4, intermediate	GLikely pathogenic
Select item 3022396	NM_000494.4(COL17A1):c.1718-18A>T	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021328	NM_000494.4(COL17A1):c.1771+20C>G	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011704	NM_000494.4(COL17A1):c.2228-20C>G	COL17A1, MIR936	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3007699	NM_000494.4(COL17A1):c.1773T>G (p.Gly591=)	COL17A1, LOC126861025	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006253	NM_000494.4(COL17A1):c.1744+20T>A	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001915	NM_000494.4(COL17A1):c.2228-14T>C	COL17A1, MIR936	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2994703	NM_000494.4(COL17A1):c.2228-20C>T	COL17A1, MIR936	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2985308	NM_000494.4(COL17A1):c.1772-14T>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973143	NM_000494.4(COL17A1):c.2228-20C>A	COL17A1, MIR936	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2971291	NM_000494.4(COL17A1):c.1718-13T>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969554	NM_000494.4(COL17A1):c.1749T>C (p.Asp583=)	COL17A1, LOC126861025	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965533	NM_000494.4(COL17A1):c.1744+13T>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963703	NM_000494.4(COL17A1):c.1771+20del	COL17A1, LOC126861025	Deletion (intron variant)	not provided	GLikely benign
Select item 2956084	NM_000494.4(COL17A1):c.1744+15G>T	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906699	NM_000494.4(COL17A1):c.1744+8T>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900823	NM_000494.4(COL17A1):c.1745-7C>T	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879280	NM_000494.4(COL17A1):c.1771+17G>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875236	NM_000494.4(COL17A1):c.1745-17T>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846903	NM_000494.4(COL17A1):c.1772-11T>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843582	NM_000494.4(COL17A1):c.1718-18A>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842272	NM_000494.4(COL17A1):c.1772-16C>A	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842261	NM_000494.4(COL17A1):c.1744+12A>G	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808564	NM_000494.4(COL17A1):c.1744+12_1744+13del	COL17A1, LOC126861025	Deletion (intron variant)	not provided	GLikely benign
Select item 2796870	NM_000494.4(COL17A1):c.1719T>C (p.Gly573=)	COL17A1, LOC126861025	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796460	NM_000494.4(COL17A1):c.1771+20C>T	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786981	NM_000494.4(COL17A1):c.1744+16G>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784395	NM_000494.4(COL17A1):c.2228-11T>C	COL17A1, MIR936	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2779602	NM_000494.4(COL17A1):c.1745-27CT[3]	COL17A1, LOC126861025	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2758182	NM_000494.4(COL17A1):c.2228-16G>A	COL17A1, MIR936	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2756674	NM_000494.4(COL17A1):c.1718-12T>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756546	NM_000494.4(COL17A1):c.1718-18A>G	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753967	NM_000494.4(COL17A1):c.1737C>A (p.Gly579=)	COL17A1, LOC126861025	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741558	NM_000494.4(COL17A1):c.1744+12A>T	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704825	NM_000494.4(COL17A1):c.1744+16G>A	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698845	NM_000494.4(COL17A1):c.1745-7C>G	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693443	NM_000494.4(COL17A1):c.1772-20A>G	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2582739	NM_000494.4(COL17A1):c.2897-2A>C	COL17A1	Single nucleotide variant (splice acceptor variant)	Epithelial recurrent erosion dystrophy	GLikely pathogenic
Select item 2570774	NM_000494.4(COL17A1):c.1750C>T (p.Arg584Ter)	COL17A1, LOC126861025 (R584*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2440270	NM_000494.4(COL17A1):c.2039-108G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2440269	NM_000494.4(COL17A1):c.1369C>G (p.Pro457Ala)	COL17A1 (P457A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672480	NM_000494.4(COL17A1):c.1718-16A>T	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1324100	NM_000494.4(COL17A1):c.2702-2A>G	COL17A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1285813	NM_000494.4(COL17A1):c.1745-263G>A	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272829	NM_000494.4(COL17A1):c.1744+280T>G	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264200	NM_000494.4(COL17A1):c.1745-195C>G	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261145	NM_000494.4(COL17A1):c.1718-61G>T	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253648	NM_000494.4(COL17A1):c.1745-110T>C	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239209	NM_000494.4(COL17A1):c.1718-172G>A	COL17A1, LOC126861025	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174485	NM_000494.4(COL17A1):c.4041T>G (p.Tyr1347Ter)	COL17A1 (Y1347*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type	GPathogenic
Select item 931123	NM_000494.4(COL17A1):c.2062C>T (p.Arg688Ter)	COL17A1 (R688*)	Single nucleotide variant (nonsense)	Epithelial recurrent erosion dystrophy	GPathogenic
Select item 931122	NM_000494.4(COL17A1):c.3071-5G>A	COL17A1	Single nucleotide variant (intron variant)	Epithelial recurrent erosion dystrophy	GUncertain significance
Select item 931121	NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)	COL17A1 (S1381L)	Single nucleotide variant (missense variant)	Epithelial recurrent erosion dystrophy	GUncertain significance
Select item 877268	NM_000494.4(COL17A1):c.1751G>A (p.Arg584Gln)	COL17A1, LOC126861025 (R584Q)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 728158	NM_000494.4(COL17A1):c.2235T>G (p.Ala745=)	COL17A1, MIR936	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 298724	NM_000494.4(COL17A1):c.1761T>C (p.Pro587=)	COL17A1, LOC126861025	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 59