C4011949[trait identifier] AND "Genome Diagnostics Laboratory, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522257	NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +2 more	GBenign/Likely benign
Select item 328591	NM_005535.3(IL12RB1):c.783+10C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +2 more	GBenign/Likely benign
Select item 328597	NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)	IL12RB1 (Q214R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +3 more	GBenign/Likely benign
Select item 328598	NM_005535.3(IL12RB1):c.467G>A (p.Arg156His)	IL12RB1 (R156H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +3 more	GBenign/Likely benign
Select item 111246	NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu)	IFNGR2 (I156L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28 +2 more	GBenign/Likely benign
Select item 522180	NM_005534.4(IFNGR2):c.595T>C (p.Leu199=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28 +1 more	GLikely benign

ClinVar