"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136660	NM_033337.3(CAV3):c.-15C>A	CAV3	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
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 409261	NM_033337.3(CAV3):c.6_7del (p.Met2fs)	CAV3 (M2fs)	Deletion (frameshift variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
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 179005	NM_033337.3(CAV3):c.39C>T (p.Ile13=)	CAV3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 162827	NM_033337.3(CAV3):c.40G>A (p.Val14Ile)	CAV3 (V14I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 31709	NM_033337.3(CAV3):c.99C>T (p.Asn33=)	CAV3	Single nucleotide variant (synonymous variant)	not provided +6 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	GBenign/Likely benign
Select item 31717	NM_033337.3(CAV3):c.123T>C (p.Phe41=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 46533	NM_033337.3(CAV3):c.144T>C (p.Pro48=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely 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)	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)	Limb-Girdle Muscular Dystrophy, Dominant +6 more	GBenign/Likely benign
Select item 136659	NM_033337.3(CAV3):c.201C>A (p.Val67=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +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)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 8279	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	CAV3, OXTR (C72W)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 8293	NM_033337.3(CAV3):c.233C>T (p.Thr78Met)	CAV3, OXTR (T78M)	Single nucleotide variant (missense variant)	Long QT syndrome 9 +8 more	GConflicting classifications of pathogenicity
Select item 241747	NM_033337.3(CAV3):c.234G>A (p.Thr78=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46534	NM_033337.3(CAV3):c.276C>T (p.Phe92=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 8285	NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)	CAV3, OXTR (A93T)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 46535	NM_033337.3(CAV3):c.306G>A (p.Ala102=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +10 more	GBenign/Likely benign
Select item 96240	NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)	CAV3, OXTR (R148Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 46537	NM_033337.3(CAV3):c.444G>A (p.Arg148=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign

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Items: 24