ClinVar for MedGen (Select 395635) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1349629	NM_033337.3(CAV3):c.310G>C (p.Val104Leu)	CAV3, OXTR (V104L)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 1299390	NM_033337.3(CAV3):c.22G>A (p.Asp8Asn)	CAV3 (D8N)	Single nucleotide variant (missense variant)	Long QT syndrome 9	GUncertain significance
Select item 1025712	NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)	CAV3 (Q12R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 1025525	NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)	CAV3, OXTR (P83S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 973213	NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)	CAV3, OXTR (I100N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GLikely pathogenic
Select item 903140	NM_033337.3(CAV3):c.*658T>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 902273	NM_033337.3(CAV3):c.*441T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 900587	NM_033337.3(CAV3):c.*134G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 869437	NM_033337.3(CAV3):c.446AGG[1] (p.Glu150del)	CAV3, OXTR (E150del)	Microsatellite (inframe_deletion)	Long QT syndrome 9	GUncertain significance
Select item 840845	NM_033337.3(CAV3):c.310G>A (p.Val104Met)	CAV3, OXTR (V104M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 798090	NM_033337.3(CAV3):c.60G>A (p.Lys20=)	CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome +6 more	GLikely benign
Select item 637987	NM_033337.3(CAV3):c.89A>G (p.Lys30Arg)	CAV3 (K30R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 457130	NM_033337.3(CAV3):c.254C>T (p.Ala85Val)	CAV3, OXTR (A85V)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 409259	NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)	CAV3, OXTR (P48R)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GUncertain significance
Select item 409256	NM_033337.3(CAV3):c.221G>A (p.Arg74His)	CAV3, OXTR (R74H)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 409255	NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)	CAV3, OXTR (E42A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 409254	NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)	CAV3, OXTR (S61N)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 346863	NM_033337.3(CAV3):c.*852G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346862	NM_033337.3(CAV3):c.*834A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346857	NM_033337.3(CAV3):c.*741G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 346854	NM_033337.3(CAV3):c.*592G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 288112	NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)	CAV3, OXTR (A134T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 279736	NM_033337.3(CAV3):c.401C>T (p.Ala134Val)	CAV3, OXTR (A134V)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GUncertain significance
Select item 180800	NM_033337.3(CAV3):c.433G>A (p.Val145Met)	CAV3, OXTR (V145M)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +10 more	GBenign/Likely benign
Select item 31740	NM_033337.3(CAV3):c.114+2T>C	CAV3	Single nucleotide variant (splice donor variant)	Elevated circulating creatine kinase concentration +5 more	GPathogenic
Select item 8296	NM_033337.3(CAV3):c.236T>G (p.Leu79Arg)	OXTR, CAV3 (L79R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 8295	NM_033337.3(CAV3):c.40G>C (p.Val14Leu)	CAV3 (V14L)	Single nucleotide variant (missense variant)	Long QT syndrome 9	GPathogenic
Select item 8294	NM_033337.3(CAV3):c.253G>A (p.Ala85Thr)	OXTR, CAV3 (A85T)	Single nucleotide variant (missense variant)	Long QT syndrome 9	GPathogenic
Select item 8293	NM_033337.3(CAV3):c.233C>T (p.Thr78Met)	CAV3, OXTR (T78M)	Single nucleotide variant (missense variant)	Caveolinopathy +8 more	GConflicting classifications of pathogenicity
Select item 8291	NM_033337.3(CAV3):c.423C>G (p.Ser141Arg)	OXTR, CAV3 (S141R)	Single nucleotide variant (missense variant)	Long QT syndrome 9	GPathogenic
Select item 8283	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	CAV3, SSUH2 (R27Q)	Single nucleotide variant (missense variant)	Distal myopathy, Tateyama type +6 more	GPathogenic
Select item 8279	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	CAV3, OXTR (C72W)	Single nucleotide variant (missense variant)	Caveolinopathy +8 more	GConflicting classifications of pathogenicity
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Caveolinopathy +13 more	GBenign/Likely benign

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Items: 34