"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1165849	NM_000094.4(COL7A1):c.8359-19T>C	COL7A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255113	NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 345826	NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)	COL7A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 198648	NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)	COL7A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 345839	NM_000094.4(COL7A1):c.5154+5T>C	COL7A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 991832	NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)	COL7A1 (A1562T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 255110	NM_000094.4(COL7A1):c.4483-11T>C	COL7A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 345853	NM_000094.4(COL7A1):c.3975+11C>T	COL7A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 774420	NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)	COL7A1 (R1120K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +8 more	GBenign/Likely benign
Select item 721147	NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa dystrophica +1 more	GConflicting classifications of pathogenicity
Select item 255105	NM_000094.4(COL7A1):c.2314+15G>A	COL7A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 502658	NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)	COL7A1 (G636V)	Single nucleotide variant (missense variant)	Pretibial dystrophic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 345878	NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)	COL7A1 (R450C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa dystrophica +2 more	GConflicting classifications of pathogenicity
Select item 736164	NM_000094.4(COL7A1):c.1098G>A (p.Gly366=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa dystrophica +1 more	GConflicting classifications of pathogenicity
Select item 345881	NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)	COL7A1 (P268S)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +8 more	GBenign/Likely benign
Select item 782984	NM_000094.4(COL7A1):c.54G>C (p.Ala18=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa dystrophica +1 more	GBenign/Likely benign