"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - 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 474975	NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu)	IL12RB1 (P391L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 541824	NM_005535.3(IL12RB1):c.1098G>A (p.Thr366=)	IL12RB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 328591	NM_005535.3(IL12RB1):c.783+10C>T	IL12RB1	Single nucleotide variant (intron variant)	Immunodeficiency 27A +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)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +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)	not specified +3 more	GBenign/Likely benign

ClinVar