C2700553[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705466	NM_000448.3(RAG1):c.256A>T (p.Lys86Ter)	RAG1 (K86*)	Single nucleotide variant (nonsense)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 626157	NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)	RAG1 (R142*)	Single nucleotide variant (nonsense)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 1705584	NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)	RAG1 (W180*)	Single nucleotide variant (nonsense)	Histiocytic medullary reticulosis +1 more	GLikely pathogenic
Select item 936307	NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr)	RAG1 (C363Y)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significance FDA Recognized database
Select item 68678	NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln)	RAG1 (R410Q)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +2 more	GPathogenic/Likely pathogenic

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