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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 159722	NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +4 more	GBenign/Likely benign
Select item 159723	NM_181523.3(PIK3R1):c.334+14A>C	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +4 more	GBenign/Likely benign
Select item 2628263	NM_181523.3(PIK3R1):c.334+12973A>C	PIK3R1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688197	NM_181523.3(PIK3R1):c.335-21006dup	PIK3R1	Duplication (intron variant)	not specified	GBenign
Select item 1277601	NM_181523.3(PIK3R1):c.427+81A>C	PIK3R1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1271646	NM_181523.3(PIK3R1):c.428-21G>A	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +4 more	GBenign
Select item 1241349	NM_181523.3(PIK3R1):c.503-86A>G	PIK3R1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1274836	NM_181523.3(PIK3R1):c.634+81A>G	PIK3R1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1233126	NM_181523.3(PIK3R1):c.917-93C>T	PIK3R1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 135039	NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile)	PIK3R1 (M326I +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1261654	NM_181523.3(PIK3R1):c.1985+112G>A	PIK3R1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign