C0432322[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338972	NM_000094.4(COL7A1):c.7976G>A (p.Gly2659Glu)	COL7A1 (G2659E)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa	GUncertain significance
Select item 17463	NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	COL7A1 (R2069C)	Single nucleotide variant (missense variant)	COL7A1-related condition +23 more	GPathogenic/Likely pathogenic
Select item 17438	NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)	COL7A1 (G2043R)	Single nucleotide variant (missense variant)	COL7A1-related condition +4 more	GPathogenic
Select item 1319567	NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)	COL7A1 (R1482Q)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1048010	NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)	COL7A1 (G1338R)	Single nucleotide variant (missense variant)	Nonsyndromic congenital nail disorder 8 +8 more	GPathogenic/Likely pathogenic
Select item 2584822	NM_000094.4(COL7A1):c.811G>C (p.Gly271Arg)	COL7A1 (G271R)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa	GUncertain significance

ClinVar