"Revvity Omics, Revvity"[submitter] AND "IL12RB1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324575	NM_005535.3(IL12RB1):c.599del (p.Leu200fs)	IL12RB1 (L200fs +1 more)	Deletion (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic/Likely pathogenic
Select item 2440899	NM_005535.3(IL12RB1):c.394C>T (p.Gln132Ter)	IL12RB1 (Q132* +1 more)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely pathogenic