"Genome-Nilou Lab"[submitter] AND "RAG1"[gene] - 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 403361	NM_000448.3(RAG1):c.746A>G (p.His249Arg)	RAG1 (H249R)	Single nucleotide variant (no sequence alteration +1 more)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 256189	NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg)	RAG1 (K820R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database