ClinVar for MedGen (Select 325004) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992563	NM_000416.3(IFNGR1):c.974C>T (p.Pro325Leu)	IFNGR1 (P284L +2 more)	Single nucleotide variant (missense variant)	Helicobacter pylori infection, susceptibility to +4 more	GUncertain significance
Select item 644527	NM_000416.3(IFNGR1):c.566C>A (p.Thr189Lys)	IFNGR1 (T148K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +5 more	GUncertain significance
Select item 625961	NM_000416.3(IFNGR1):c.665A>G (p.His222Arg)	IFNGR1 (H222R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +5 more	GUncertain significance
Select item 355565	NM_000416.3(IFNGR1):c.-56T>C	IFNGR1	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 27A +2 more	GBenign
Select item 36371	NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro)	IFNGR1 (H335P +2 more)	Single nucleotide variant (missense variant)	Interferon gamma receptor deficiency +7 more	GBenign/Likely benign
Select item 17947	NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs)	IFNGR1 (N233fs +2 more)	Deletion (frameshift variant)	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency +7 more	GPathogenic

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