Related gene-specific medical variations for Gene (Select 5295) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238634	NM_181523.3(PIK3R1):c.1358_1360dup (p.Asn453_Thr454insAsn)	PIK3R1	Duplication	Vascular malformation	GLikely pathogenic
Select item 2582569	NM_181523.3(PIK3R1):c.1264G>A (p.Val422Met)	PIK3R1 (V122M +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36	GUncertain significance
Select item 2434858	NM_181523.3(PIK3R1):c.1077T>C (p.Asp359=)	PIK3R1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2434857	NM_181523.3(PIK3R1):c.397A>G (p.Ile133Val)	PIK3R1 (I133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434856	NM_181523.3(PIK3R1):c.748C>G (p.Leu250Val)	PIK3R1 (L250V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676212	NM_181523.3(PIK3R1):c.1723_1731del (p.Lys575_Arg577del)	PIK3R1	Deletion (inframe_deletion)	See cases	GLikely pathogenic
Select item 1676211	NM_181523.3(PIK3R1):c.1732_1738delinsTGTAAGAAAG (p.Asp578_Tyr580delinsCysLysLysAsp)	PIK3R1	Indel (inframe_indel)	CLOVES syndrome	GLikely pathogenic
Select item 1342396	NM_181523.3(PIK3R1):c.917-4792G>A	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +1 more	GUncertain significance
Select item 1252288	NM_181523.3(PIK3R1):c.917-3746CGAGC[4]	LOC129994009, PIK3R1	Microsatellite (intron variant)	not provided	GBenign
Select item 1240977	NM_181523.3(PIK3R1):c.917-3730A>G	LOC129994009, PIK3R1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 931810	NM_181523.3(PIK3R1):c.769A>C (p.Asn257His)	PIK3R1 (N257H)	Single nucleotide variant (missense variant)	Immunodeficiency 36	GUncertain significance
Select item 548511	NM_181523.3(PIK3R1):c.911C>T (p.Ala304Val)	PIK3R1 (A304V)	Single nucleotide variant (missense variant)	SHORT syndrome	GUncertain significance
Select item 376260	NM_181523.3(PIK3R1):c.1678_1695del (p.Asp560_Ser565del)	PIK3R1	Deletion (inframe_deletion)	Neoplasm	GLikely pathogenic
Select item 376259	NM_181523.3(PIK3R1):c.1678G>T (p.Asp560Tyr)	PIK3R1 (D560Y +3 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376257	NM_181523.3(PIK3R1):c.1314AGA[1] (p.Glu439del)	PIK3R1 (E439del +3 more)	Microsatellite (inframe_deletion)	Neoplasm	GLikely pathogenic
Select item 376066	NM_181523.3(PIK3R1):c.1692C>A (p.Asn564Lys)	PIK3R1 (N564K +3 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376065	NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg)	PIK3R1 (G376R +3 more)	Single nucleotide variant (missense variant)	Neoplasm +4 more	GLikely pathogenic
Select item 161844	NM_181523.3(PIK3R1):c.1939C>A (p.Leu647Ile)	PIK3R1 (L377I +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance