"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688430	NM_001364905.1(LRBA):c.8469-487A>C	LRBA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688468	NM_001364905.1(LRBA):c.8469-707_8469-705dup	LRBA	Duplication (intron variant)	not specified	GBenign
Select item 403047	NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu)	LRBA (S2809L +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GBenign
Select item 403048	NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr)	LRBA (A2704T +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 1280628	NM_001364905.1(LRBA):c.7630+31G>A	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1251388	NM_001364905.1(LRBA):c.7195-141T>C	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1269206	NM_001364905.1(LRBA):c.6922-40C>A	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1265528	NM_001364905.1(LRBA):c.6921+60C>G	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288951	NM_001364905.1(LRBA):c.6551+84A>G	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1231266	NM_001364905.1(LRBA):c.5646-71G>A	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 403050	NM_001364905.1(LRBA):c.5550T>C (p.Val1850=)	LRBA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 1283841	NM_001364905.1(LRBA):c.1756-140G>A	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1174165	NM_001364905.1(LRBA):c.1360-40A>G	LRBA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166827	NM_001364905.1(LRBA):c.1347A>G (p.Ala449=)	LRBA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign