"GeneDx"[submitter] AND "LOC130063979"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506717	NM_005027.4(PIK3R2):c.550C>T (p.Pro184Ser)	LOC130063979, PIK3R2 (P184S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1314320	NM_005027.4(PIK3R2):c.554T>C (p.Leu185Pro)	LOC130063979, PIK3R2 (L185P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1240500	NM_005027.4(PIK3R2):c.598+24G>A	LOC130063979, PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707257	NM_005027.4(PIK3R2):c.627G>A (p.Leu209=)	LOC130063979, PIK3R2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1170503	NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys)	LOC130063979, PIK3R2 (R231C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GBenign
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 3252715	NM_005027.4(PIK3R2):c.813C>G (p.Asp271Glu)	LOC130063979, PIK3R2 (D271E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar