"GeneDx"[submitter] AND "CD40"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286483	NC_000020.11:g.46118099C>T	CD40, LOC127893450	Single nucleotide variant	not provided	GBenign
Select item 338568	NM_001250.5(CD40):c.-41C>T	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3 +1 more	GBenign
Select item 338569	NM_001250.6(CD40):c.-1T>C	CD40, LOC127893450	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1245520	NM_001250.6(CD40):c.51+53G>A	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1287702	NM_001250.6(CD40):c.51+71C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260157	NM_001250.6(CD40):c.131-22C>G	CD40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275290	NM_001250.6(CD40):c.256+109G>A	CD40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377634	NM_001250.6(CD40):c.403+20A>G	CD40	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 3 +2 more	GBenign/Likely benign
Select item 1706661	NM_001250.6(CD40):c.404-120A>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225541	NM_001250.6(CD40):c.498-168G>T	CD40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267312	NM_001250.6(CD40):c.646+28G>A	CD40	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1244658	NM_001250.6(CD40):c.646+45A>C	CD40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 984483	NM_001250.6(CD40):c.647-3dup	CD40	Duplication (intron variant)	Hyper-IgM syndrome type 3 +2 more	GBenign
Select item 338575	NM_001250.6(CD40):c.647-4_647-3dup	CD40	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1260218	NM_001250.6(CD40):c.647-4_647-3del	CD40	Deletion (intron variant)	not provided	GBenign
Select item 1226413	NM_001250.6(CD40):c.647-3del	CD40	Deletion (intron variant)	not provided	GBenign
Select item 1236220	NM_001250.6(CD40):c.675+216A>G	CD40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261840	NM_001250.6(CD40):c.676-114G>A	CD40	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2501318	NM_001250.6(CD40):c.676-46C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 338576	NM_001250.6(CD40):c.679C>G (p.Pro227Ala)	CD40 (P227A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 338579	NM_001250.6(CD40):c.*135C>G	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GBenign

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Items: 21