"Ambry Genetics"[submitter] AND "LOC130063979"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2212053	NM_005027.4(PIK3R2):c.517G>A (p.Gly173Ser)	LOC130063979, PIK3R2 (G173S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1954122	NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp)	LOC130063979, PIK3R2 (R199W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2541947	NM_005027.4(PIK3R2):c.688G>A (p.Gly230Ser)	LOC130063979, PIK3R2 (G230S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1347474	NM_005027.4(PIK3R2):c.695T>G (p.Val232Gly)	LOC130063979, PIK3R2 (V232G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2622695	NM_005027.4(PIK3R2):c.731G>T (p.Arg244Leu)	LOC130063979, PIK3R2 (R244L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1190673	NM_005027.4(PIK3R2):c.734C>A (p.Ala245Asp)	LOC130063979, PIK3R2 (A245D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2297206	NM_005027.4(PIK3R2):c.780GCCGTCCTCGCCGCCGCC[6] (p.Pro266_Gly267insProSerSerProProProProSerSerProProProProSerSerProProProProSerSerProProProProSerSerProProPro)	LOC130063979, PIK3R2	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases	GUncertain significance