"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210074	NM_000448.3(RAG1):c.140del (p.Lys47fs)	RAG1 (K47fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 36714	NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)	RAG1 (R108*)	Single nucleotide variant (nonsense)	RAG1-Related Disorders +5 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 with skin granulomas +4 more	GPathogenic

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