"GeneDx"[submitter] AND "LOC126805612"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 1315936	NM_005026.5(PIK3CD):c.1092C>A (p.Ser364Arg)	LOC126805612, PIK3CD (S335R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 651966	NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	not provided +3 more	GUncertain significance
Select item 1249488	NM_005026.5(PIK3CD):c.1242+315A>T	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234673	NM_005026.5(PIK3CD):c.1243-108T>C	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1318706	NM_005026.5(PIK3CD):c.1340-1G>A	LOC126805612, PIK3CD	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 941354	NM_005026.5(PIK3CD):c.1459G>A (p.Ala487Thr)	LOC126805612, PIK3CD (A458T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GConflicting classifications of pathogenicity

ClinVar