"PreventionGenetics, part of Exact Sciences"[submitter] AND "RAG1"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36711	NM_000448.3(RAG1):c.189A>G (p.Pro63=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +5 more	GBenign/Likely benign
Select item 138882	NM_000448.3(RAG1):c.303G>A (p.Ala101=)	RAG1	Single nucleotide variant (synonymous variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 304496	NM_000448.3(RAG1):c.592A>C (p.Arg198=)	RAG1	Single nucleotide variant (synonymous variant)	RAG1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 36715	NM_000448.3(RAG1):c.906C>A (p.Asp302Glu)	RAG1 (D302E)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 636824	NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)	RAG1 (R404W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +5 more	GPathogenic/Likely pathogenic
Select item 256188	NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys)	RAG1 (R449K)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 697702	NM_000448.3(RAG1):c.1578G>A (p.Leu526=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +2 more	GBenign/Likely benign
Select item 756581	NM_000448.3(RAG1):c.1665C>T (p.Thr555=)	RAG1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GLikely benign
Select item 1704499	NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)	RAG1 (R776Q)	Single nucleotide variant (missense variant)	RAG1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 536964	NM_000448.3(RAG1):c.2451A>G (p.Glu817=)	RAG1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GBenign/Likely benign
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
Select item 1075542	NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr)	RAG1 (I956T)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic
Select item 256190	NM_000448.3(RAG1):c.2880A>G (p.Ala960=)	RAG1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 536963	NM_000448.3(RAG1):c.3016A>G (p.Met1006Val)	RAG1 (M1006V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +5 more	GConflicting classifications of pathogenicity