C1835931[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976229	NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter)	RAG1 (Q917*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 855458	NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys)	RAG1 (R973C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GConflicting classifications of pathogenicity