C4011949[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2585538	NM_000416.3(IFNGR1):c.85+1G>T	IFNGR1	Single nucleotide variant (splice donor variant)	Immunodeficiency 27A	GLikely pathogenic