C1834752[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 534651	NM_080424.4(SP110):c.1647C>T (p.Cys549=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GBenign/Likely benign
Select item 334904	NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)	SP110 (G483R +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +2 more	GBenign/Likely benign
Select item 776023	NM_001318789.2(TLR2):c.1626C>G (p.Leu542=)	TLR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 36371	NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro)	IFNGR1 (H335P +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +7 more	GBenign/Likely benign
Select item 17947	NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs)	IFNGR1 (N233fs +2 more)	Deletion (frameshift variant)	IFN-gamma receptor 1 deficiency +7 more	GPathogenic
Select item 4467	NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu)	TIRAP (S180L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign

ClinVar