Related gene-specific medical variations for Gene (Select 5289) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689752	NM_002647.4(PIK3C3):c.1969-1G>A	PIK3C3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2689751	NM_002647.4(PIK3C3):c.1170+3G>A	PIK3C3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 979696	GRCh37/hg19 18q12.3(chr18:39457608-39692846)x3	PIK3C3	Copy number gain	not provided	GLikely benign
Select item 979694	GRCh37/hg19 18q12.3(chr18:39379698-39791501)x3	PIK3C3	Copy number gain	not provided	GLikely benign
Select item 686295	GRCh37/hg19 18q12.3(chr18:39422882-39566113)x1	PIK3C3	Copy number loss	not provided	GUncertain significance
Select item 268064	GRCh37/hg19 18q12.3(chr18:38768209-39662517)x3	PIK3C3	Copy number gain	See cases	GUncertain significance

ClinVar