CN030319[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225195	NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)	IL2RG	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 225194	NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)	IL2RG	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 1301872	NM_000206.3(IL2RG):c.484C>G (p.Leu162Val)	IL2RG (L162V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

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