"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 702764	NM_001382430.1(AKT1):c.1363+9C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 221141	NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)	AKT1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 240102	NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)	AKT1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 240101	NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +2 more	GBenign/Likely benign
Select item 498670	NM_001382430.1(AKT1):c.726G>A (p.Glu242=)	AKT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 416469	NM_001382430.1(AKT1):c.604C>T (p.Leu202=)	AKT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1187314	NM_001382430.1(AKT1):c.567+14G>A	AKT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 416470	NM_001382430.1(AKT1):c.558C>T (p.Ile186=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +1 more	GBenign
Select item 1284750	NM_001382430.1(AKT1):c.175+18C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GBenign

ClinVar