C1279481[trait identifier] AND "GeneReviews"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418656	NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	IL2RG (R328*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 10027	NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)	IL2RG (R222C)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database