ClinVar for MedGen (Select 433151) - ClinVar

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Items: 53

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10375741.	NM_033337.3(CAV3):c.165C>A (p.Asp55Glu) GRCh37: Chr3:8787262 GRCh38: Chr3:8745576	OXTR, CAV3	D55E	Caveolinopathy, Long QT syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9031402.	NM_033337.3(CAV3):c.*658T>A GRCh37: Chr3:8788211 GRCh38: Chr3:8746525	CAV3, OXTR		Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Long QT syndrome 9, Caveolinopathy	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9031393.	NM_033337.3(CAV3):c.*598G>C GRCh37: Chr3:8788151 GRCh38: Chr3:8746465	CAV3, OXTR		Caveolinopathy	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 9031384.	NM_033337.3(CAV3):c.*569G>A GRCh37: Chr3:8788122 GRCh38: Chr3:8746436	CAV3, OXTR		Caveolinopathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 9022735.	NM_033337.3(CAV3):c.*441T>C GRCh37: Chr3:8787994 GRCh38: Chr3:8746308	OXTR, CAV3		Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Long QT syndrome 9, Caveolinopathy	Uncertain significance (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9022726.	NM_033337.3(CAV3):c.*440G>A GRCh37: Chr3:8787993 GRCh38: Chr3:8746307	CAV3, OXTR		Caveolinopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9022717.	NM_033337.3(CAV3):c.*435T>A GRCh37: Chr3:8787988 GRCh38: Chr3:8746302	CAV3, OXTR		Caveolinopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9022708.	NM_033337.3(CAV3):c.*340G>A GRCh37: Chr3:8787893 GRCh38: Chr3:8746207	CAV3, OXTR		Caveolinopathy, not provided	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 9022699.	NM_033337.3(CAV3):c.*312G>A GRCh37: Chr3:8787865 GRCh38: Chr3:8746179	CAV3, OXTR		Caveolinopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90058810.	NM_033337.3(CAV3):c.*193T>C GRCh37: Chr3:8787746 GRCh38: Chr3:8746060	CAV3, OXTR		Caveolinopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90058711.	NM_033337.3(CAV3):c.*134G>A GRCh37: Chr3:8787687 GRCh38: Chr3:8746001	OXTR, CAV3		Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Long QT syndrome 9, Caveolinopathy	Uncertain significance (Sep 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90058612.	NM_033337.3(CAV3):c.*86G>A GRCh37: Chr3:8787639 GRCh38: Chr3:8745953	CAV3, OXTR		Caveolinopathy, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 90058513.	NM_033337.3(CAV3):c.*38G>C GRCh37: Chr3:8787591 GRCh38: Chr3:8745905	CAV3, OXTR		Caveolinopathy, not provided	Benign (Apr 27, 2017)	criteria provided, multiple submitters, no conflicts
Select item 90058414.	NM_033337.3(CAV3):c.*20G>A GRCh37: Chr3:8787573 GRCh38: Chr3:8745887	CAV3, OXTR		Caveolinopathy, not specified, not provided	Benign (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90058315.	NM_033337.3(CAV3):c.*13C>A GRCh37: Chr3:8787566 GRCh38: Chr3:8745880	CAV3, OXTR		Caveolinopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 37762716.	NM_033337.3(CAV3):c.*85C>A GRCh37: Chr3:8787638 GRCh38: Chr3:8745952	CAV3, OXTR		Caveolinopathy, not specified	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 34686417.	NM_033337.3(CAV3):c.*853T>C GRCh37: Chr3:8788406 GRCh38: Chr3:8746720	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34686318.	NM_033337.3(CAV3):c.*852G>A GRCh37: Chr3:8788405 GRCh38: Chr3:8746719	CAV3, OXTR		Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34686219.	NM_033337.3(CAV3):c.*834A>T GRCh37: Chr3:8788387 GRCh38: Chr3:8746701	CAV3, OXTR		Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome	Uncertain significance (Sep 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34686120.	NM_033337.3(CAV3):c.*813del GRCh37: Chr3:8788364 GRCh38: Chr3:8746678	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy	Benign/Likely benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34686021.	NM_033337.3(CAV3):c.*805C>A GRCh37: Chr3:8788358 GRCh38: Chr3:8746672	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy	Conflicting interpretations of pathogenicity (Oct 14, 2021)	criteria provided, conflicting interpretations
Select item 34685922.	NM_033337.3(CAV3):c.*788C>A GRCh37: Chr3:8788341 GRCh38: Chr3:8746655	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 34685823.	NM_033337.3(CAV3):c.*763G>A GRCh37: Chr3:8788316 GRCh38: Chr3:8746630	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 34685724.	NM_033337.3(CAV3):c.*741G>A GRCh37: Chr3:8788294 GRCh38: Chr3:8746608	CAV3, OXTR		Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34685625.	NM_033337.3(CAV3):c.*725T>C GRCh37: Chr3:8788278 GRCh38: Chr3:8746592	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Long QT syndrome, Caveolinopathy, Hypertrophic cardiomyopathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34685526.	NM_033337.3(CAV3):c.*722G>A GRCh37: Chr3:8788275 GRCh38: Chr3:8746589	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34685427.	NM_033337.3(CAV3):c.*592G>A GRCh37: Chr3:8788145 GRCh38: Chr3:8746459	CAV3, OXTR		Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Caveolinopathy, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34685328.	NM_033337.3(CAV3):c.*467T>C GRCh37: Chr3:8788020 GRCh38: Chr3:8746334	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34685229.	NM_033337.3(CAV3):c.*433C>T GRCh37: Chr3:8787986 GRCh38: Chr3:8746300	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34685130.	NM_033337.3(CAV3):c.*277G>A GRCh37: Chr3:8787830 GRCh38: Chr3:8746144	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 34685031.	NM_033337.3(CAV3):c.*276C>T GRCh37: Chr3:8787829 GRCh38: Chr3:8746143	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34684932.	NM_033337.3(CAV3):c.259C>T (p.Leu87Phe) GRCh37: Chr3:8787356 GRCh38: Chr3:8745670	CAV3, OXTR	L87F	Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Caveolinopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 18080133.	NM_033337.3(CAV3):c.442C>T (p.Arg148Trp) GRCh37: Chr3:8787539 GRCh38: Chr3:8745853	CAV3, OXTR	R148W	not specified, not provided, Cardiomyopathy, Long QT syndrome, Caveolinopathy	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 18079534.	NM_033337.3(CAV3):c.-33G>T GRCh37: Chr3:8775530 GRCh38: Chr3:8733844	CAV3		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not specified, Caveolinopathy	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 13665935.	NM_033337.3(CAV3):c.201C>A (p.Val67=) GRCh37: Chr3:8787298 GRCh38: Chr3:8745612	CAV3, OXTR		Cardiovascular phenotype, not specified, not provided, Caveolinopathy, Long QT syndrome	Conflicting interpretations of pathogenicity (Apr 4, 2023)	criteria provided, conflicting interpretations
Select item 9624036.	NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) GRCh37: Chr3:8787540 GRCh38: Chr3:8745854	CAV3, OXTR	R148Q	Cardiovascular phenotype, Caveolinopathy, not provided, Cardiomyopathy, not specified, Long QT syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 4653637.	NM_033337.3(CAV3):c.336C>T (p.Ile112=) GRCh37: Chr3:8787433 GRCh38: Chr3:8745747	CAV3, OXTR		Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Rippling muscle disease 2, Long QT syndrome 9, Elevated circulating creatine kinase concentration, Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Caveolinopathy, Long QT syndrome ...see more	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4653438.	NM_033337.3(CAV3):c.276C>T (p.Phe92=) GRCh37: Chr3:8787373 GRCh38: Chr3:8745687	CAV3, OXTR		Cardiovascular phenotype, not specified, not provided, Long QT syndrome, Caveolinopathy, Cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 3580439.	NM_033337.3(CAV3):c.417C>T (p.Val139=) GRCh37: Chr3:8787514 GRCh38: Chr3:8745828	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Cardiovascular phenotype, Congenital long QT syndrome, not provided, Long QT syndrome, Caveolinopathy, Cardiomyopathy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 3173940.	NM_033337.3(CAV3):c.-37G>A GRCh37: Chr3:8775526 GRCh38: Chr3:8733840	CAV3		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not specified, Caveolinopathy	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 3172041.	NM_033337.3(CAV3):c.*783A>G GRCh37: Chr3:8788336 GRCh38: Chr3:8746650	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy	Benign/Likely benign (May 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3171842.	NM_033337.3(CAV3):c.*543T>C GRCh37: Chr3:8788096 GRCh38: Chr3:8746410	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy	Benign/Likely benign (May 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3171743.	NM_033337.3(CAV3):c.123T>C (p.Phe41=) GRCh37: Chr3:8787220 GRCh38: Chr3:8745534	CAV3, OXTR		Cardiovascular phenotype, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not specified, Caveolinopathy, Long QT syndrome	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3171644.	NM_033337.3(CAV3):c.27C>T (p.Leu9=) GRCh37: Chr3:8775589 GRCh38: Chr3:8733903	CAV3		Limb-Girdle Muscular Dystrophy, Dominant, Cardiovascular phenotype, Distal myopathy, Tateyama type, Rippling muscle disease 2, not specified, Congenital long QT syndrome, not provided, Long QT syndrome, Caveolinopathy	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3171445.	NM_033337.3(CAV3):c.171G>A (p.Val57=) GRCh37: Chr3:8787268 GRCh38: Chr3:8745582	CAV3, OXTR		Cardiovascular phenotype, Limb-Girdle Muscular Dystrophy, Dominant, not specified, not provided, Long QT syndrome, Caveolinopathy, Cardiomyopathy	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3171146.	NM_033337.3(CAV3):c.204C>A (p.Ser68=) GRCh37: Chr3:8787301 GRCh38: Chr3:8745615	CAV3, OXTR		Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Long QT syndrome, Caveolinopathy	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3170947.	NM_033337.3(CAV3):c.99C>T (p.Asn33=) GRCh37: Chr3:8775661 GRCh38: Chr3:8733975	CAV3		Cardiovascular phenotype, Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not specified, Caveolinopathy, Long QT syndrome, not provided	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3170748.	NM_033337.3(CAV3):c.*811C>G GRCh37: Chr3:8788364 GRCh38: Chr3:8746678	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy	Benign/Likely benign (May 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3170649.	NM_033337.3(CAV3):c.*645A>T GRCh37: Chr3:8788198 GRCh38: Chr3:8746512	CAV3, OXTR		Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, not provided, Caveolinopathy	Benign/Likely benign (May 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 829350.	NM_033337.3(CAV3):c.233C>T (p.Thr78Met) GRCh37: Chr3:8787330 GRCh38: Chr3:8745644	CAV3, OXTR	T78M	Cardiovascular phenotype, Long QT syndrome, not specified, not provided, Caveolinopathy, Cardiomyopathy, Long QT syndrome 9, Long QT syndrome 1	Conflicting interpretations of pathogenicity (Jul 24, 2023)	criteria provided, conflicting interpretations
Select item 828851.	NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) GRCh37: Chr3:8787288 GRCh38: Chr3:8745602	CAV3, OXTR	T64S	Caveolinopathy	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 827952.	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) GRCh37: Chr3:8787313 GRCh38: Chr3:8745627	CAV3, OXTR	C72W	Cardiovascular phenotype, Long QT syndrome, not provided, not specified, Limb-girdle muscular dystrophy, Caveolinopathy, Cardiomyopathy, Long QT syndrome 1	Conflicting interpretations of pathogenicity (Aug 22, 2023)	criteria provided, conflicting interpretations
Select item 827853.	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) GRCh37: Chr3:8787263 GRCh38: Chr3:8745577	CAV3, OXTR	G56S	Long QT syndrome 9, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Cardiovascular phenotype, Limb-Girdle Muscular Dystrophy, Dominant, Long QT syndrome, not specified, Limb-girdle muscular dystrophy, CardiomyopathyCaveolinopathy, not provided, Long QT syndrome 1, ...see more	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 53