"IL12B-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 904894	NM_002187.3(IL12B):c.822C>T (p.Cys274=)	IL12B	Single nucleotide variant (synonymous variant)	IL12B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 791067	NM_002187.3(IL12B):c.677G>A (p.Ser226Asn)	IL12B (S226N)	Single nucleotide variant (missense variant)	IL12B-related disorder +1 more	GBenign/Likely benign
Select item 776100	NM_002187.3(IL12B):c.669C>T (p.Tyr223=)	IL12B	Single nucleotide variant (synonymous variant)	IL12B-related disorder +1 more	GBenign/Likely benign
Select item 632459	NM_002187.3(IL12B):c.660T>A (p.Tyr220Ter)	IL12B (Y220*)	Single nucleotide variant (nonsense)	IL12B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 734424	NM_002187.3(IL12B):c.483-6C>T	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency +1 more	GLikely benign
Select item 541814	NM_002187.3(IL12B):c.283G>A (p.Glu95Lys)	IL12B (E95K)	Single nucleotide variant (missense variant)	IL12B-related disorder +1 more	GConflicting classifications of pathogenicity

ClinVar