"OMIM"[submitter] AND "CD40LG"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 422070	NM_000074.3(CD40LG):c.107T>A (p.Met36Lys)	CD40LG (M36K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 11162	NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)	CD40LG (M36R)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GPathogenic/Likely pathogenic
Select item 11169	NM_000074.3(CD40LG):c.189dup (p.Val64fs)	CD40LG (V64fs)	Duplication (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 11168	NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu)	CD40LG (A123E)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 11158	NM_000074.2(CD40LG):c.[384T>A;386A>G]	CD40LG (E129G +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 11166	NM_000074.3(CD40LG):c.412_419del	CD40LG	Deletion (splice acceptor variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 11164	NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly)	CD40LG (W140G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 11163	NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter)	CD40LG (W140*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 1	GPathogenic
Select item 11160	NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro)	CD40LG (L155P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 11159	NM_000074.3(CD40LG):c.680G>T (p.Gly227Val)	CD40LG (G227V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 11157	NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro)	CD40LG (A235P)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GPathogenic
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