"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827718	NM_001364905.1(LRBA):c.8422G>T (p.Gly2808Ter)	LRBA (G2807* +3 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827717	NM_001364905.1(LRBA):c.4522C>T (p.Gln1508Ter)	LRBA (Q1508*)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827716	NM_001364905.1(LRBA):c.2258+3dup	LRBA	Duplication (intron variant)	Inherited Immunodeficiency Diseases	GUncertain significance
Select item 827711	NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter)	LRBA (R633*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to LRBA deficiency +1 more	GConflicting classifications of pathogenicity

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