"Revvity Omics, Revvity"[submitter] AND "RAG1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432921	NM_000448.3(RAG1):c.705dup (p.Leu236fs)	RAG1 (L236fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 660211	NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp)	RAG1 (R394W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1072413	NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)	RAG1 (R404Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +4 more	GPathogenic
Select item 68684	NM_000448.3(RAG1):c.1421G>A (p.Arg474His)	RAG1 (R474H)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 36710	NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)	RAG1 (W522C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic
Select item 13143	NM_000448.3(RAG1):c.1682G>A (p.Arg561His)	RAG1 (R561H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 631657	NM_000448.3(RAG1):c.2488A>T (p.Lys830Ter)	RAG1 (K830*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 13154	NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp)	RAG1 (R841W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic
Select item 2137056	NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)	RAG1 (R841Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease +4 more	GPathogenic/Likely pathogenic
Select item 418450	NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser)	RAG1 (N855S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 68693	NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)	RAG1 (R975Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +4 more	GPathogenic/Likely pathogenic