"Human Evolutionary Genetics, Institut Pasteur"[submitter] AND "NOD2"[ - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 102969	NM_001370466.1(NOD2):c.-9+2758A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102970	NM_001370466.1(NOD2):c.-8-2619C>A	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102971	NM_001370466.1(NOD2):c.-8-2406T>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 102972	NM_001370466.1(NOD2):c.-8-2388C>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 103115	NM_001370466.1(NOD2):c.-8-2335G>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 103127	NM_001370466.1(NOD2):c.-8-2021T>C	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103116	NM_001370466.1(NOD2):c.950C>T (p.Ser317Phe)	NOD2 (S344F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103117	NM_001370466.1(NOD2):c.1178G>A (p.Arg393His)	NOD2 (R420H +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 103118	NM_001370466.1(NOD2):c.1923G>A (p.Pro641=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 103119	NM_001370466.1(NOD2):c.2181G>A (p.Leu727=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 103120	NM_001370466.1(NOD2):c.2337C>G (p.Gly779=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 103121	NM_001370466.1(NOD2):c.2381+199A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103122	NM_001370466.1(NOD2):c.2381+218A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103123	NM_001370466.1(NOD2):c.2465+28G>A	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103124	NM_001370466.1(NOD2):c.2466-41G>A	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103125	NM_001370466.1(NOD2):c.2550-316A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103126	NM_001370466.1(NOD2):c.2717+148A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103114	NM_001370466.1(NOD2):c.*8G>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 103113	NM_001370466.1(NOD2):c.*80T>C	NOD2, CYLD-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 103111	NM_001370466.1(NOD2):c.*192T>C	NOD2, CYLD-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 103112	NM_001370466.1(NOD2):c.*214T>C	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21