"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258579	NM_002185.5(IL7R):c.82+16G>C	IL7R	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1267196	NM_002185.5(IL7R):c.82+46C>T	IL7R	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1291030	NM_002185.5(IL7R):c.82+74C>G	IL7R	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1262774	NM_002185.5(IL7R):c.82+101A>G	IL7R	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 14839	NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)	IL7R (I66T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 1245300	NM_002185.5(IL7R):c.221+60C>G	IL7R	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2688248	NM_002185.5(IL7R):c.221+67A>G	IL7R	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 14840	NM_002185.5(IL7R):c.412G>A (p.Val138Ile)	IL7R (V138I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 137585	NM_002185.5(IL7R):c.495C>T (p.His165=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 134530	NM_002185.5(IL7R):c.731C>T (p.Thr244Ile)	IL7R (T244I)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 1165796	NM_002185.5(IL7R):c.801-21A>T	IL7R	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 134533	NM_002185.5(IL7R):c.1066A>G (p.Ile356Val)	IL7R (I356V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database