"Illumina Laboratory Services, Illumina"[submitter] AND "LOC127893450" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338565	NM_001250.5(CD40):c.-69delT	CD40, LOC127893450	Deletion	Hyperimmunoglobulin M syndrome +1 more	GBenign/Likely benign
Select item 895885	NM_001250.5(CD40):c.-67G>T	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3	GUncertain significance
Select item 338566	NM_001250.5(CD40):c.-61G>T	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3	GUncertain significance
Select item 338567	NM_001250.5(CD40):c.-55C>G	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3	GUncertain significance
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 specified +2 more	GBenign

ClinVar