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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827730	NM_001322934.2(NFKB2):c.1469+1G>T	NFKB2	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +1 more	GPathogenic
Select item 827731	NM_001322934.2(NFKB2):c.1903C>T (p.Arg635Ter)	NFKB2 (R593* +1 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 65385	NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)	NFKB2, PSD (R853* +1 more)	Single nucleotide variant (nonsense)	not specified +4 more	GPathogenic

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