Related gene-specific medical variations for Gene (Select 959) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243910	NC_000023.10:g.(?_135730408)_(135732576_?)del	CD40LG	Deletion	Hyper-IgM syndrome type 1	GPathogenic
Select item 2439819	NM_000074.3(CD40LG):c.762G>C (p.Thr254=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 871949	NM_000074.3(CD40LG):c.707C>T (p.Ser236Leu)	CD40LG (S236L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636391	NM_000074.3(CD40LG):c.208_209del (p.Gln70fs)	CD40LG (Q70fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 242794	NM_000074.3(CD40LG):c.384T>A (p.Ser128Arg)	CD40LG (S128R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242723	NM_000074.3(CD40LG):c.386A>G (p.Glu129Gly)	CD40LG (E129G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 11170	NG_007280.1:g.5145_5146insAluAluYb8inv	CD40LG	Insertion	Hyper-IgM syndrome type 1	GPathogenic
Select item 11167	CD40LG, 10-BP DEL	CD40LG	Deletion	Hyper-IgM syndrome type 1	GPathogenic
Select item 11165	NM_000074.3(CD40LG):c.349_409+2del	CD40LG	Deletion (splice acceptor variant +1 more)	Hyper-IgM syndrome type 1	GPathogenic
Select item 11161	CD40LG, THR211ASP	CD40LG	Variation	Hyper-IgM syndrome type 1	GPathogenic