"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31716	NM_033337.3(CAV3):c.27C>T (p.Leu9=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 31709	NM_033337.3(CAV3):c.99C>T (p.Asn33=)	CAV3	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +6 more	GBenign/Likely benign
Select item 31717	NM_033337.3(CAV3):c.123T>C (p.Phe41=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +7 more	GBenign/Likely benign
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign
Select item 162828	NM_033337.3(CAV3):c.168C>T (p.Gly56=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 136659	NM_033337.3(CAV3):c.201C>A (p.Val67=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 31711	NM_033337.3(CAV3):c.204C>A (p.Ser68=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 46534	NM_033337.3(CAV3):c.276C>T (p.Phe92=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	Caveolinopathy +10 more	GBenign/Likely benign