C0079294[trait identifier] AND "Biomedical Innovation Departament, CIE - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047954	NM_000094.4(COL7A1):c.8717del (p.Pro2906fs)	COL7A1 (P2906fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047953	NM_000094.4(COL7A1):c.8572T>C (p.Tyr2858His)	COL7A1 (Y2858H)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047952	NM_000094.4(COL7A1):c.8537_8565del (p.Pro2846fs)	COL7A1 (P2846fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1032188	NM_000094.4(COL7A1):c.8304+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa pruriginosa +7 more	GPathogenic/Likely pathogenic
Select item 1047951	NM_000094.4(COL7A1):c.8209G>C (p.Gly2737Arg)	COL7A1 (G2737R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 632419	NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys)	COL7A1 (E2736K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1047950	NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val)	COL7A1 (G2722V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1047949	NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp)	COL7A1 (R2703W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1047948	NM_000094.4(COL7A1):c.8103_8104dup (p.Glu2702fs)	COL7A1 (E2702fs)	Duplication (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047947	NM_000094.4(COL7A1):c.7930-1G>C	COL7A1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048059	NM_000094.4(COL7A1):c.7929+2T>C	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048058	NM_000094.4(COL7A1):c.7885G>C (p.Gly2629Arg)	COL7A1 (G2629R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048057	NM_000094.4(COL7A1):c.7864del (p.Arg2622fs)	COL7A1 (R2622fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 449005	NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)	COL7A1 (R2622W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1048056	NM_000094.4(COL7A1):c.7760G>A (p.Gly2587Asp)	COL7A1 (G2587D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048055	NM_000094.4(COL7A1):c.7756dup (p.Gln2586fs)	COL7A1 (Q2586fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1048054	NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys)	COL7A1 (R2580C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +2 more	GPathogenic
Select item 1048053	NM_000094.4(COL7A1):c.7686G>C (p.Lys2562Asn)	COL7A1 (K2562N)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048052	NM_000094.4(COL7A1):c.7651G>C (p.Gly2551Arg)	COL7A1 (G2551R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048051	NM_000094.4(COL7A1):c.7559G>T (p.Gly2520Val)	COL7A1 (G2520V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048050	NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)	COL7A1 (R2492*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1048049	NM_000094.4(COL7A1):c.7380+2T>C	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa dystrophica +2 more	GPathogenic
Select item 1048048	NM_000094.4(COL7A1):c.7300G>A (p.Gly2434Arg)	COL7A1 (G2434R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048047	NM_000094.4(COL7A1):c.7283G>T (p.Gly2428Val)	COL7A1 (G2428V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048046	NM_000094.4(COL7A1):c.7272+5G>A	COL7A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1048045	NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp)	COL7A1 (R2424W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1048023	NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter)	COL7A1 (Q2417*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1048022	NM_000094.4(COL7A1):c.7104+5G>A	COL7A1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1048021	NM_000094.4(COL7A1):c.7097G>A (p.Gly2366Asp)	COL7A1 (G2366D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 689753	NM_000094.4(COL7A1):c.7068+5G>A	COL7A1	Single nucleotide variant (intron variant)	Epidermolysis bullosa dystrophica +8 more	GConflicting classifications of pathogenicity
Select item 1048020	NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg)	COL7A1 (G2351R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1048019	NM_000094.4(COL7A1):c.6900+2T>G	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048018	NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 17447	NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)	COL7A1 (G2287R)	Single nucleotide variant (missense variant)	COL7A1-related disorder +3 more	GPathogenic
Select item 372346	NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter)	COL7A1 (R2261*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1048017	NM_000094.4(COL7A1):c.6767C>T (p.Pro2256Leu)	COL7A1 (P2256L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048016	NM_000094.4(COL7A1):c.6686C>T (p.Pro2229Leu)	COL7A1 (P2229L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048015	NM_000094.4(COL7A1):c.6670G>T (p.Gly2224Ter)	COL7A1 (G2224*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048014	NM_000094.4(COL7A1):c.6662G>C (p.Gly2221Ala)	COL7A1 (G2221A)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048013	NM_000094.4(COL7A1):c.6618+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048012	NM_000094.4(COL7A1):c.6574-1G>C	COL7A1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048011	NM_000094.4(COL7A1):c.6573+1G>C	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 372345	NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)	COL7A1 (G2177fs)	Duplication (frameshift variant)	Pretibial dystrophic epidermolysis bullosa +11 more	GPathogenic
Select item 623128	NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa dystrophica +5 more	GPathogenic/Likely pathogenic
Select item 1047986	NM_000094.4(COL7A1):c.6341G>A (p.Gly2114Asp)	COL7A1 (G2114D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1047985	NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs)	COL7A1 (P2089fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 17463	NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	COL7A1 (R2069C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa pruriginosa +22 more	GConflicting classifications of pathogenicity
Select item 17456	NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp)	COL7A1 (R2063W)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +2 more	GPathogenic
Select item 1047984	NM_000094.4(COL7A1):c.6182G>T (p.Gly2061Val)	COL7A1 (G2061V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1047983	NM_000094.4(COL7A1):c.6181-2A>G	COL7A1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047982	NM_000094.4(COL7A1):c.6178_6179del (p.Arg2060fs)	COL7A1 (R2060fs)	Microsatellite (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047980	NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)	COL7A1 (G2049E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1047981	NM_000094.4(COL7A1):c.6132_6133insAGGCTC (p.Leu2044_Pro2045insArgLeu)	COL7A1	Insertion (inframe_insertion)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 17438	NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)	COL7A1 (G2043R)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa +3 more	GPathogenic
Select item 1047979	NM_000094.4(COL7A1):c.6119G>A (p.Gly2040Asp)	COL7A1 (G2040D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +1 more	GPathogenic
Select item 17450	NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)	COL7A1 (G2034R)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa +3 more	GPathogenic
Select item 817592	NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs)	COL7A1 (G2028fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 379476	NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg)	COL7A1 (G2028R)	Single nucleotide variant (missense variant)	Pretibial dystrophic epidermolysis bullosa +8 more	GPathogenic
Select item 1047978	NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val)	COL7A1 (G2015V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1047946	NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs)	COL7A1 (Q2014fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047945	NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser)	COL7A1 (G2012S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 522791	NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)	COL7A1 (R2008C)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +2 more	GPathogenic/Likely pathogenic
Select item 1047944	NM_000094.4(COL7A1):c.5944_5945delinsTA (p.Gly1982Ter)	COL7A1 (G1982*)	Indel (nonsense)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 449469	NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter)	COL7A1 (R1978*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa dystrophica +1 more	GPathogenic
Select item 1047943	NM_000094.4(COL7A1):c.5892_5905del (p.Asp1964fs)	COL7A1 (D1964fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 431810	NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)	COL7A1	Single nucleotide variant (synonymous variant)	Pretibial dystrophic epidermolysis bullosa +9 more	GPathogenic/Likely pathogenic
Select item 1047942	NM_000094.4(COL7A1):c.5771A>G (p.Gln1924Arg)	COL7A1 (Q1924R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047941	NM_000094.4(COL7A1):c.5755G>A (p.Gly1919Arg)	COL7A1 (G1919R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047940	NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs)	COL7A1 (K1859fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1047939	NM_000094.4(COL7A1):c.5569-11_5569-3del	COL7A1	Deletion (intron variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048113	NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs)	COL7A1 (G1854fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047938	NM_000094.4(COL7A1):c.5532+6T>C	COL7A1	Single nucleotide variant (intron variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047937	NM_000094.4(COL7A1):c.5532+1G>T	COL7A1	Single nucleotide variant (splice donor variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 372340	NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 1047936	NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter)	COL7A1 (Q1817*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1047935	NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)	COL7A1 (R1814C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048044	NM_000094.4(COL7A1):c.5407G>A (p.Gly1803Arg)	COL7A1, MIR711 (G1803R)	Single nucleotide variant (non-coding transcript variant +1 more)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048043	NM_000094.4(COL7A1):c.5390G>A (p.Gly1797Asp)	MIR711, COL7A1 (G1797D)	Single nucleotide variant (non-coding transcript variant +1 more)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048042	NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu)	COL7A1 (G1794E)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +1 more	GConflicting classifications of pathogenicity
Select item 1048041	NM_000094.4(COL7A1):c.5327G>A (p.Gly1776Glu)	COL7A1 (G1776E)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048040	NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter)	COL7A1 (R1763*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa dystrophica +1 more	GPathogenic
Select item 936007	NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)	COL7A1 (R1730*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 952076	NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)	COL7A1 (G1712fs)	Insertion (frameshift variant)	Epidermolysis bullosa dystrophica +3 more	GPathogenic
Select item 1048039	NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs)	COL7A1 (T1711fs)	Insertion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 17451	NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)	COL7A1 (P1699L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 372337	NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)	COL7A1 (R1683*)	Single nucleotide variant (nonsense)	COL7A1-related disorder +3 more	GPathogenic
Select item 1048112	NM_000094.4(COL7A1):c.5017_5018del (p.Gly1673fs)	COL7A1 (G1673fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048038	NM_000094.4(COL7A1):c.4899+31G>A	COL7A1	Single nucleotide variant (intron variant)	Epidermolysis bullosa dystrophica +1 more	GConflicting classifications of pathogenicity
Select item 1048111	NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs)	COL7A1 (A1517fs)	Deletion (frameshift variant)	Epidermolysis bullosa dystrophica +1 more	GPathogenic
Select item 1048037	NM_000094.4(COL7A1):c.4434dup (p.Lys1479fs)	COL7A1 (K1479fs)	Duplication (frameshift variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048036	NM_000094.4(COL7A1):c.4401+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048035	NM_000094.4(COL7A1):c.4343G>A (p.Gly1448Asp)	COL7A1 (G1448D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048034	NM_000094.4(COL7A1):c.4197+1G>T	COL7A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048033	NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg)	COL7A1 (G1383R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 663385	NM_000094.4(COL7A1):c.4128del (p.Gly1377fs)	COL7A1 (G1377fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1048010	NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)	COL7A1 (G1338R)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 1048009	NM_000094.4(COL7A1):c.3995G>A (p.Gly1332Asp)	COL7A1 (G1332D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 757455	NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)	COL7A1 (P1270L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +2 more	GConflicting classifications of pathogenicity
Select item 1048008	NM_000094.4(COL7A1):c.3759+2T>G	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048007	NM_000094.4(COL7A1):c.3759+1G>T	COL7A1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa dystrophica	GPathogenic

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