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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46531	NM_033337.3(CAV3):c.-1G>A	CAV3	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 46532	NM_033337.3(CAV3):c.115-13G>C	CAV3, OXTR	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 457129	NM_033337.3(CAV3):c.165C>T (p.Asp55=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 162828	NM_033337.3(CAV3):c.168C>T (p.Gly56=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 31714	NM_033337.3(CAV3):c.171G>A (p.Val57=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +6 more	GBenign/Likely benign
Select item 136659	NM_033337.3(CAV3):c.201C>A (p.Val67=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Caveolinopathy +4 more	GConflicting classifications of pathogenicity
Select item 180800	NM_033337.3(CAV3):c.433G>A (p.Val145Met)	CAV3, OXTR (V145M)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GUncertain significance
Select item 900584	NM_033337.3(CAV3):c.*20G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign

ClinVar