"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 403049	NM_001364905.1(LRBA):c.7849+10A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GBenign
Select item 1175092	NM_001364905.1(LRBA):c.7019A>G (p.Gln2340Arg)	LRBA (Q2340R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 403052	NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys)	LRBA (R1997C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign/Likely benign
Select item 196133	NM_001364905.1(LRBA):c.4569+9C>T	LRBA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 281585	NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly)	LRBA (A1090G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 473170	NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val)	LRBA (I724V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GBenign
Select item 1297620	NM_001364905.1(LRBA):c.840G>C (p.Lys280Asn)	LRBA (K280N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar