"3billion"[submitter] AND "IL12RB1"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526194	NM_005535.3(IL12RB1):c.1561C>T (p.Arg521Ter)	IL12RB1 (R521* +1 more)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 1687504	NM_005535.3(IL12RB1):c.1238_1239del (p.Cys413fs)	IL12RB1 (C413fs +1 more)	Microsatellite (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 1339542	NM_005535.3(IL12RB1):c.517C>T (p.Arg173Trp)	IL12RB1 (R173W +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic

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