"Molecular Diagnostics Laboratory, M Health Fairview: University of Mi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623128	NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa dystrophica +6 more	GConflicting classifications of pathogenicity
Select item 17449	NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu)	COL7A1 (G2015E)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GPathogenic
Select item 17448	NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp)	COL7A1 (G2006D)	Single nucleotide variant (missense variant)	COL7A1-related condition +1 more	GPathogenic/Likely pathogenic
Select item 623187	NM_000094.4(COL7A1):c.5783G>A (p.Gly1928Glu)	COL7A1 (G1928E)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 372341	NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)	COL7A1 (G1869R)	Single nucleotide variant (missense variant)	COL7A1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 29636	NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)	COL7A1 (K142R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa pruriginosa +12 more	GPathogenic

ClinVar