"3billion"[submitter] AND "COL7A1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333254	NM_000094.4(COL7A1):c.8117del (p.Pro2706fs)	COL7A1 (P2706fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 2444105	NM_000094.4(COL7A1):c.8109+5G>C	COL7A1	Single nucleotide variant (intron variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1705398	NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp)	COL7A1 (G2692D)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1333476	NM_000094.4(COL7A1):c.8047-2A>C	COL7A1	Single nucleotide variant (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1075764	NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser)	COL7A1 (G2680S)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 419502	NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter)	COL7A1 (R2610*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa pruriginosa +2 more	GPathogenic
Select item 1705552	NM_000094.4(COL7A1):c.7336G>A (p.Gly2446Arg)	COL7A1 (G2446R)	Single nucleotide variant (missense variant)	Pretibial dystrophic epidermolysis bullosa	GUncertain significance
Select item 1333619	NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)	COL7A1 (G2372E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2444339	NM_000094.4(COL7A1):c.6927G>C (p.Lys2309Asn)	COL7A1 (K2309N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1705525	NM_000094.4(COL7A1):c.6759_6760del (p.Gly2254fs)	COL7A1 (G2254fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1526040	NM_000094.4(COL7A1):c.6145G>A (p.Gly2049Arg)	COL7A1 (G2049R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1526197	NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser)	COL7A1 (G1890S)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1526043	NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg)	COL7A1 (G1854R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1705667	NM_000094.4(COL7A1):c.5324del (p.Pro1775fs)	COL7A1 (P1775fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 631924	NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)	COL7A1 (R1772W)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +2 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 1333696	NM_000094.4(COL7A1):c.5026G>A (p.Gly1676Arg)	COL7A1 (G1676R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa pruriginosa	GUncertain significance
Select item 1333712	NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg)	COL7A1 (G1673R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 1526116	NM_000094.4(COL7A1):c.4635+5G>A	COL7A1	Single nucleotide variant (intron variant)	Recessive dystrophic epidermolysis bullosa	GUncertain significance
Select item 1333268	NM_000094.4(COL7A1):c.2858_2859del (p.Glu953fs)	COL7A1 (E953fs)	Deletion (frameshift variant +1 more)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 1705599	NM_000094.4(COL7A1):c.1606C>T (p.Gln536Ter)	COL7A1 (Q536*)	Single nucleotide variant (nonsense)	Pretibial dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 488684	NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter)	COL7A1 (Q251*)	Single nucleotide variant (nonsense)	Pretibial dystrophic epidermolysis bullosa +1 more	GPathogenic
Select item 1676652	NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)	COL7A1 (G2233S)	Single nucleotide variant	not provided +3 more	GPathogenic

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Items: 23