ClinVar for MedGen (Select 371357) - ClinVar

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Items: 39

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25012751.	NC_000003.11:g.(?_8775485)_(8788452_?)del GRCh37: Chr3:8775485-8788452	CAV3		Rippling muscle disease 2	Pathogenic (Mar 27, 2023)	criteria provided, single submitter
Select item 13496292.	NM_033337.3(CAV3):c.310G>C (p.Val104Leu) GRCh37: Chr3:8787407 GRCh38: Chr3:8745721	CAV3, OXTR	V104L	Long QT syndrome, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Long QT syndrome 9, Elevated circulating creatine kinase concentration, Distal myopathy, Tateyama type	Uncertain significance (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10257123.	NM_033337.3(CAV3):c.35A>G (p.Gln12Arg) GRCh37: Chr3:8775597 GRCh38: Chr3:8733911	CAV3	Q12R	Long QT syndrome, Hypertrophic cardiomyopathy 1, Long QT syndrome 9, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Rippling muscle disease 2	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10255254.	NM_033337.3(CAV3):c.247C>T (p.Pro83Ser) GRCh37: Chr3:8787344 GRCh38: Chr3:8745658	CAV3, OXTR	P83S	Long QT syndrome, Hypertrophic cardiomyopathy 1, Long QT syndrome 9, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Rippling muscle disease 2	Uncertain significance (Nov 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9732135.	NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) GRCh37: Chr3:8787396 GRCh38: Chr3:8745710	CAV3, OXTR	I100N	Hypertrophic cardiomyopathy 1, Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Long QT syndrome 9, Distal myopathy, Tateyama type	Likely pathogenic (Jan 28, 2019)	criteria provided, single submitter
Select item 9313766.	NM_033337.3(CAV3):c.65T>C (p.Ile22Thr) GRCh37: Chr3:8775627 GRCh38: Chr3:8733941	CAV3	I22T	Rippling muscle disease 2, Cardiovascular phenotype, Long QT syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9031407.	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 9022738.	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 9005879.	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 84084510.	NM_033337.3(CAV3):c.310G>A (p.Val104Met) GRCh37: Chr3:8787407 GRCh38: Chr3:8745721	OXTR, CAV3	V104M	Long QT syndrome, Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Long QT syndrome 9, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, not provided	Uncertain significance (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79809011.	NM_033337.3(CAV3):c.60G>A (p.Lys20=) GRCh37: Chr3:8775622 GRCh38: Chr3:8733936	CAV3		Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9, Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Long QT syndrome, Cardiovascular phenotype	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45713012.	NM_033337.3(CAV3):c.254C>T (p.Ala85Val) GRCh37: Chr3:8787351 GRCh38: Chr3:8745665	CAV3, OXTR	A85V	Rippling muscle disease 2, Long QT syndrome 9, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Long QT syndrome	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40925913.	NM_033337.3(CAV3):c.143C>G (p.Pro48Arg) GRCh37: Chr3:8787240 GRCh38: Chr3:8745554	CAV3, OXTR	P48R	Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome 9, Cardiovascular phenotype, Long QT syndrome	Uncertain significance (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40925614.	NM_033337.3(CAV3):c.221G>A (p.Arg74His) GRCh37: Chr3:8787318 GRCh38: Chr3:8745632	CAV3, OXTR	R74H	Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome 9, not provided, Long QT syndrome, Cardiomyopathy	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40925515.	NM_033337.3(CAV3):c.125A>C (p.Glu42Ala) GRCh37: Chr3:8787222 GRCh38: Chr3:8745536	CAV3, OXTR	E42A	Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome 9, Cardiovascular phenotype, not provided, Long QT syndrome, not specified	Uncertain significance (Apr 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40925416.	NM_033337.3(CAV3):c.182G>A (p.Ser61Asn) GRCh37: Chr3:8787279 GRCh38: Chr3:8745593	CAV3, OXTR	S61N	Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome 9, not provided, Long QT syndrome	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 34686317.	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 34686218.	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 34685719.	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 34685420.	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 28811221.	NM_033337.3(CAV3):c.400G>A (p.Ala134Thr) GRCh37: Chr3:8787497 GRCh38: Chr3:8745811	CAV3, OXTR	A134T	not provided, Long QT syndrome, Hypertrophic cardiomyopathy 1, Long QT syndrome 9, Elevated circulating creatine kinase concentration, Distal myopathy, Tateyama type, Rippling muscle disease 2	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 27973622.	NM_033337.3(CAV3):c.401C>T (p.Ala134Val) GRCh37: Chr3:8787498 GRCh38: Chr3:8745812	CAV3, OXTR	A134V	Cardiovascular phenotype, Long QT syndrome, Cardiomyopathy, not provided, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Long QT syndrome 9	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18080023.	NM_033337.3(CAV3):c.433G>A (p.Val145Met) GRCh37: Chr3:8787530 GRCh38: Chr3:8745844	CAV3, OXTR	V145M	not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome 9, Elevated circulating creatine kinase concentration, not specified, Long QT syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4653624.	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 3174025.	NM_033337.3(CAV3):c.114+2T>C GRCh37: Chr3:8775678 GRCh38: Chr3:8733992	CAV3		Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Rippling muscle disease 2, Long QT syndrome 9, Long QT syndrome	Pathogenic (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3173026.	NM_033337.3(CAV3):c.100G>A (p.Glu34Lys) GRCh37: Chr3:8775662 GRCh38: Chr3:8733976	CAV3	E34K	Cardiomyopathy, Long QT syndrome, Rippling muscle disease 2	Conflicting interpretations of pathogenicity (Mar 29, 2022)	criteria provided, conflicting interpretations
Select item 3171627.	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 829028.	NM_033337.3(CAV3):c.139G>A (p.Glu47Lys) GRCh37: Chr3:8787236 GRCh38: Chr3:8745550	CAV3, OXTR	E47K	not provided	Uncertain significance (Aug 12, 2019)	criteria provided, single submitter
Select item 828629.	NM_033337.3(CAV3):c.290_292del (p.Phe97del) GRCh37: Chr3:8787385-8787387 GRCh38: Chr3:8745699-8745701	CAV3, OXTR	F97del	not provided	Uncertain significance (Aug 26, 2015)	criteria provided, single submitter
Select item 828530.	NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) GRCh37: Chr3:8787374 GRCh38: Chr3:8745688	CAV3, OXTR	A93T	Cardiovascular phenotype, not provided, Long QT syndrome, Rippling muscle disease 2	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 828431.	NM_033337.3(CAV3):c.260T>C (p.Leu87Pro) GRCh37: Chr3:8787357 GRCh38: Chr3:8745671	CAV3, OXTR	L87P	Long QT syndrome, SUDDEN INFANT DEATH SYNDROME	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 828332.	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) GRCh37: Chr3:8775642 GRCh38: Chr3:8733956	CAV3, SSUH2	R27Q	Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome 9, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, not provided, Long QT syndrome, Distal myopathy, Tateyama type, Rippling muscle disease 2	Pathogenic (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 828233.	NM_033337.3(CAV3):c.137C>T (p.Ala46Val) GRCh37: Chr3:8787234 GRCh38: Chr3:8745548	CAV3, OXTR	A46V	not provided	Likely pathogenic (Jan 25, 2016)	criteria provided, single submitter
Select item 828134.	NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) GRCh37: Chr3:8787233 GRCh38: Chr3:8745547	CAV3, OXTR	A46T	Cardiovascular phenotype, not provided, Long QT syndrome	Pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 828035.	NM_033337.3(CAV3):c.84C>A (p.Asp28Glu) GRCh37: Chr3:8775646 GRCh38: Chr3:8733960	CAV3	D28E	Rippling muscle disease 2	Pathogenic (Jan 1, 2005)	no assertion criteria provided
Select item 827936.	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 827837.	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
Select item 827738.	NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del) GRCh37: Chr3:8787286-8787294 GRCh38: Chr3:8745597-8745605	CAV3, OXTR		Rippling muscle disease 2	Pathogenic (Sep 3, 1999)	no assertion criteria provided
Select item 827639.	NM_033337.3(CAV3):c.314C>T (p.Pro105Leu) GRCh37: Chr3:8787411 GRCh38: Chr3:8745725	CAV3, OXTR	P105L	Rippling muscle disease 2	Pathogenic (Jan 1, 2005)	no assertion criteria provided

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Items: 39