"Clinical Genetics, Academic Medical Center"[submitter] AND "CAV3"[gen - ClinVar - NCBI

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Items: 13

	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 31716	NM_033337.3(CAV3):c.27C>T (p.Leu9=)	CAV3	Single nucleotide variant (synonymous variant)	Rippling muscle disease 2 +8 more	GBenign/Likely benign
Select item 31709	NM_033337.3(CAV3):c.99C>T (p.Asn33=)	CAV3	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Dominant +6 more	GBenign/Likely benign
Select item 31717	NM_033337.3(CAV3):c.123T>C (p.Phe41=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Dominant +5 more	GBenign/Likely 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 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GBenign/Likely benign
Select item 31714	NM_033337.3(CAV3):c.171G>A (p.Val57=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Dominant +6 more	GBenign/Likely benign
Select item 31711	NM_033337.3(CAV3):c.204C>A (p.Ser68=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 46534	NM_033337.3(CAV3):c.276C>T (p.Phe92=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign/Likely benign
Select item 35804	NM_033337.3(CAV3):c.417C>T (p.Val139=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 96240	NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)	CAV3, OXTR (R148Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
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