"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 827715	NM_005535.3(IL12RB1):c.962C>A (p.Ser321Ter)	IL12RB1 (S361* +1 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases +1 more	GPathogenic
Select item 827714	NM_005535.3(IL12RB1):c.518G>C (p.Arg173Pro)	IL12RB1 (R213P +1 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +1 more	GConflicting classifications of pathogenicity