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Links from MedGen

Items: 34

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:8787407
GRCh38:
Chr3:8745721
CAV3, OXTRV104LLong QT syndrome, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Long QT syndrome 9
Uncertain significance
(Dec 8, 2021)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr3:8775584
GRCh38:
Chr3:8733898
CAV3D8NLong QT syndrome 9Uncertain significance
(Mar 9, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr3:8775597
GRCh38:
Chr3:8733911
CAV3Q12RHypertrophic cardiomyopathy 1, Long QT syndrome 9, Elevated circulating creatine kinase concentration,
Distal myopathy, Tateyama type, Rippling muscle disease 2, Long QT syndrome
Uncertain significance
(Aug 30, 2021)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr3:8787344
GRCh38:
Chr3:8745658
CAV3, OXTRP83SHypertrophic cardiomyopathy 1, Long QT syndrome 9, Elevated circulating creatine kinase concentration,
Distal myopathy, Tateyama type, Rippling muscle disease 2, Long QT syndrome
Uncertain significance
(Nov 14, 2021)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:8787396
GRCh38:
Chr3:8745710
CAV3, OXTRI100NHypertrophic cardiomyopathy 1, Long QT syndrome 9, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Rippling muscle disease 2		Likely pathogenic
(Jan 28, 2019)		criteria provided, single submitter
6.
GRCh37:
Chr3:8788211
GRCh38:
Chr3:8746525
CAV3, OXTRRippling muscle disease 2, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration,
Hypertrophic cardiomyopathy 1, Long QT syndrome 9, Caveolinopathy
Uncertain significance
(Aug 20, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr3:8787994
GRCh38:
Chr3:8746308
CAV3, OXTRCaveolinopathy, Rippling muscle disease 2, Long QT syndrome 9,
Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1
Uncertain significance
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:8787687
GRCh38:
Chr3:8746001
CAV3, OXTRCaveolinopathy, Rippling muscle disease 2, Hypertrophic cardiomyopathy 1,
Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Long QT syndrome 9
Uncertain significance
(Sep 6, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr3:8787543-8787545
GRCh38:
Chr3:8745857-8745859
CAV3, OXTRE150delLong QT syndrome 9Uncertain significance
(Sep 17, 2019)		criteria provided, single submitter
10.
GRCh37:
Chr3:8787407
GRCh38:
Chr3:8745721
CAV3, OXTRV104MHypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9,
Rippling muscle disease 2, Elevated circulating creatine kinase concentration, not provided,
Long QT syndrome		Uncertain significance
(Sep 20, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:8775622
GRCh38:
Chr3:8733936
CAV3Hypertrophic cardiomyopathy 1, Elevated circulating creatine kinase concentration, Long QT syndrome 9,
Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome,
Cardiovascular phenotype		Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:8775651
GRCh38:
Chr3:8733965
CAV3K30RCardiovascular phenotype, not provided, Long QT syndrome 9,
Long QT syndrome		Uncertain significance
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:8787351
GRCh38:
Chr3:8745665
OXTR, CAV3A85VElevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Long QT syndrome 9,
Rippling muscle disease 2, Distal myopathy, Tateyama type, Long QT syndrome
Uncertain significance
(Sep 15, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:8787240
GRCh38:
Chr3:8745554
CAV3, OXTRP48RHypertrophic cardiomyopathy 1, Rippling muscle disease 2, Long QT syndrome 9,
Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration, Cardiovascular phenotype,
Long QT syndrome		Uncertain significance
(Jul 8, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:8787318
GRCh38:
Chr3:8745632
CAV3, OXTRR74HLong QT syndrome, not provided, Elevated circulating creatine kinase concentration,
Long QT syndrome 9, Hypertrophic cardiomyopathy 1, Rippling muscle disease 2,
Distal myopathy, Tateyama type, Cardiomyopathy		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:8787222
GRCh38:
Chr3:8745536
OXTR, CAV3E42ALong QT syndrome, not specified, Cardiovascular phenotype,
not provided, Hypertrophic cardiomyopathy 1, Long QT syndrome 9,
Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Distal myopathy, Tateyama type
Uncertain significance
(Sep 3, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr3:8787279
GRCh38:
Chr3:8745593
CAV3, OXTRS61NLong QT syndrome, Hypertrophic cardiomyopathy 1, Long QT syndrome 9,
Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Distal myopathy, Tateyama type,
not provided		Uncertain significance
(Feb 22, 2023)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr3:8788405
GRCh38:
Chr3:8746719
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration,
Hypertrophic cardiomyopathy 1, Long QT syndrome 9, Rippling muscle disease 2,
Congenital long QT syndrome, Caveolinopathy		Uncertain significance
(Sep 16, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:8788387
GRCh38:
Chr3:8746701
OXTR, CAV3Limb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Long QT syndrome 9,
Rippling muscle disease 2, Caveolinopathy		Uncertain significance
(Sep 21, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr3:8788294
GRCh38:
Chr3:8746608
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Long QT syndrome 9,
Rippling muscle disease 2, Caveolinopathy		Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:8788145
GRCh38:
Chr3:8746459
CAV3, OXTRLimb-Girdle Muscular Dystrophy, Dominant, Congenital long QT syndrome, Distal myopathy, Tateyama type,
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy 1, Long QT syndrome 9,
Rippling muscle disease 2, Caveolinopathy		Uncertain significance
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:8787497
GRCh38:
Chr3:8745811
CAV3, OXTRA134THypertrophic cardiomyopathy 1, Elevated circulating creatine kinase concentration, Distal myopathy, Tateyama type,
Long QT syndrome 9, Rippling muscle disease 2, not provided,
Long QT syndrome		Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:8787498
GRCh38:
Chr3:8745812
CAV3, OXTRA134VHypertrophic cardiomyopathy 1, Long QT syndrome 9, Elevated circulating creatine kinase concentration,
Rippling muscle disease 2, Distal myopathy, Tateyama type, Cardiovascular phenotype,
not provided, Long QT syndrome, Cardiomyopathy
Uncertain significance
(Aug 25, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr3:8787530
GRCh38:
Chr3:8745844
CAV3, OXTRV145MHypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome 9,
Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Cardiovascular phenotype,
not specified, not provided, Long QT syndrome
Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:8787433
GRCh38:
Chr3:8745747
CAV3, OXTRHypertrophic cardiomyopathy 1, Long QT syndrome 9, Elevated circulating creatine kinase concentration,
Rippling muscle disease 2, Distal myopathy, Tateyama type, 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
26.
GRCh37:
Chr3:8775678
GRCh38:
Chr3:8733992
CAV3Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Long QT syndrome 9,
Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type, Long QT syndrome
Pathogenic
(Nov 24, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:8787333
GRCh38:
Chr3:8745647
CAV3, OXTRL79RLong QT syndromeUncertain significance
(Aug 30, 2021)		criteria provided, single submitter
28.
GRCh37:
Chr3:8775602
GRCh38:
Chr3:8733916
CAV3V14LLong QT syndrome 9Pathogenic
(Feb 1, 2007)		no assertion criteria provided
29.
GRCh37:
Chr3:8787350
GRCh38:
Chr3:8745664
OXTR, CAV3A85TLong QT syndrome 9Pathogenic
(Nov 14, 2006)		no assertion criteria provided
30.
GRCh37:
Chr3:8787330
GRCh38:
Chr3:8745644
CAV3, OXTRT78MCardiovascular phenotype, not specified, not provided,
Long QT syndrome, Caveolinopathy, Cardiomyopathy,
Long QT syndrome 9, Long QT syndrome 1		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr3:8787520
GRCh38:
Chr3:8745834
OXTR, CAV3S141RLong QT syndrome 9Pathogenic
(Nov 14, 2006)		no assertion criteria provided
32.
GRCh37:
Chr3:8775642
GRCh38:
Chr3:8733956
CAV3, SSUH2R27QRippling muscle disease 2, Distal myopathy, Tateyama type, Elevated circulating creatine kinase concentration,
Long QT syndrome 9, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type,
not provided, Long QT syndrome, Rippling muscle disease 2
Pathogenic
(Sep 9, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:8787313
GRCh38:
Chr3:8745627
CAV3, OXTRC72WCardiovascular phenotype, not specified, not provided,
Caveolinopathy, Cardiomyopathy, Limb-girdle muscular dystrophy,
Long QT syndrome, Long QT syndrome 1		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr3:8787263
GRCh38:
Chr3:8745577
CAV3, OXTRG56SLimb-Girdle Muscular Dystrophy, Dominant, Long QT syndrome 9, Hypertrophic cardiomyopathy 1,
Elevated circulating creatine kinase concentration, Distal myopathy, Tateyama type, Rippling muscle disease 2,
Cardiovascular phenotype, not specified, not provided,
Caveolinopathy, Limb-girdle muscular dystrophyLong QT syndrome,
Cardiomyopathy, Long QT syndrome 1, ...see more		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
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