"Blueprint Genetics"[submitter] AND "IL12RB1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 579038	NM_005535.3(IL12RB1):c.1791+2T>G	IL12RB1	Single nucleotide variant (splice donor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GPathogenic
Select item 636666	NM_005535.3(IL12RB1):c.264C>G (p.Tyr88Ter)	IL12RB1 (Y88* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic