C3553512[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444132	NM_001364905.1(LRBA):c.8107_8110del (p.Ser2703fs)	LRBA (S2702fs +3 more)	Deletion (frameshift variant)	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 2572564	NM_001364905.1(LRBA):c.5645+1G>C	LRBA	Single nucleotide variant (splice donor variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 2572489	NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)	LRBA (S1671fs)	Duplication (frameshift variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 1687373	NM_001364905.1(LRBA):c.3952T>G (p.Leu1318Val)	LRBA (L1318V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 218543	NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala)	LRBA (T1167A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1687436	NM_001364905.1(LRBA):c.2767-2A>G	LRBA	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 1705624	NM_001364905.1(LRBA):c.1319del (p.Pro440fs)	LRBA (P440fs)	Deletion (frameshift variant)	Combined immunodeficiency due to LRBA deficiency	GLikely pathogenic
Select item 1687335	NM_001364905.1(LRBA):c.534del (p.Asp179fs)	LRBA (D179fs)	Deletion (frameshift variant)	Combined immunodeficiency due to LRBA deficiency	GPathogenic