"CD40LG-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038668	NM_000074.3(CD40LG):c.-6C>T	CD40LG	Single nucleotide variant (5 prime UTR variant)	CD40LG-related disorder	GLikely benign
Select item 3050209	NM_000074.3(CD40LG):c.289-37_289-36del	CD40LG	Deletion (intron variant)	CD40LG-related disorder	GLikely benign
Select item 1164806	NM_000074.3(CD40LG):c.315G>A (p.Thr105=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1 +1 more	GBenign/Likely benign
Select item 755354	NM_000074.3(CD40LG):c.487G>A (p.Val163Ile)	CD40LG (V163I)	Single nucleotide variant (missense variant)	CD40LG-related disorder +1 more	GBenign/Likely benign
Select item 461469	NM_000074.3(CD40LG):c.684A>G (p.Val228=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1 +2 more	GBenign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File