"Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376064	NM_181523.3(PIK3R1):c.1126G>A (p.Gly376Arg)	PIK3R1 (G376R +3 more)	Single nucleotide variant (missense variant)	Neoplasm +1 more	GPathogenic/Likely pathogenic
Select item 996073	NM_181523.3(PIK3R1):c.1355_1365delinsTTCAAGAAAAAAGTTTCTTGAAA (p.Tyr452_Gln455delinsPheGlnGluLysSerPheLeuLys)	PIK3R1	Indel (inframe_indel)	Vascular Malformations and Overgrowth	GLikely pathogenic
Select item 996074	NM_181523.3(PIK3R1):c.1392_1403del (p.Asp464_Tyr467del)	PIK3R1	Deletion (inframe_deletion)	Overgrowth syndrome	GLikely pathogenic
Select item 376261	NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp)	PIK3R1 (N564D +3 more)	Single nucleotide variant (missense variant)	Vascular malformation	GPathogenic
Select item 996075	NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu)	PIK3R1 (K204E +3 more)	Single nucleotide variant (missense variant)	CLOVES syndrome	GLikely pathogenic
Select item 996076	NM_181523.3(PIK3R1):c.1735_1740del (p.Gln579_Tyr580del)	PIK3R1	Deletion (inframe_deletion)	Vascular Malformations and Overgrowth +1 more	GPathogenic/Likely pathogenic
Select item 996077	NM_181523.3(PIK3R1):c.1746-6_1751del	PIK3R1	Deletion (splice acceptor variant)	Vascular Malformations and Overgrowth	GPathogenic
Select item 996078	NM_181523.3(PIK3R1):c.1746-5_1748del	PIK3R1	Deletion (splice acceptor variant)	Vascular Malformations and Overgrowth	GPathogenic
Select item 376263	NM_181523.3(PIK3R1):c.1748_1750delGGT	PIK3R1	Microsatellite (splice acceptor variant)	Neoplasm +1 more	GPathogenic/Likely pathogenic