NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)Pathogenic
Rippling muscle disease 2|Elevated circulating creatine kinase concentration|not provided|Long QT syndrome|Cardiovascular phenotype|Myopathy with tubular aggregates
β
β
ββ2025β Residue 46
NM_033337.3(CAV3):c.213G>A (p.Trp71Ter)Pathogenic
Long QT syndrome
β
β
ββ2025β Residue 71
NM_033337.3(CAV3):c.114+2T>CPathogenic
not provided|Long QT syndrome|Hypertrophic cardiomyopathy 1;Rippling muscle disease 2;Distal myopathy, Tateyama type;Elevated circulating creatine kinase concentration;Long QT syndrome 9
β
β
ββ2021
NM_033337.3(CAV3):c.256del (p.Leu86fs)Pathogenic
Long QT syndrome
β
βββ2025β Residue 86
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)Pathogenic
not provided|Long QT syndrome
β
βββ2024β Residue 27
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)Pathogenic
Rippling muscle disease 2|not provided|Long QT syndrome
β
βββ2024β Residue 105
NM_033337.3(CAV3):c.128A>G (p.Asp43Gly)Likely pathogenic
Rippling muscle disease 2
β
βββ2024β Residue 43
NM_033337.3(CAV3):c.196_197insTT (p.Thr66fs)Pathogenic
Long QT syndrome
β
βββ2023β Residue 66
NM_033337.3(CAV3):c.263G>A (p.Trp88Ter)Pathogenic
Long QT syndrome
β
βββ2023β Residue 88
NM_033337.3(CAV3):c.79C>T (p.Arg27Ter)Pathogenic
Long QT syndrome
β
βββ2022β Residue 27
NM_033337.3(CAV3):c.183C>A (p.Ser61Arg)Likely pathogenic
not provided|CAV3-related disorder
β
βββ2022β Residue 61
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)Pathogenic
Distal myopathy, Tateyama type|Long QT syndrome
β
βββ2022β Residue 33
NM_033337.3(CAV3):c.99C>A (p.Asn33Lys)Pathogenic
Long QT syndrome
β
βββ2022β Residue 33
NM_033337.3(CAV3):c.154_155dup (p.Ser53fs)Likely pathogenic
Abnormality of the musculature
β
βββ2021β Residue 53
NM_033337.3(CAV3):c.84C>G (p.Asp28Glu)Likely pathogenic
not provided
β
βββ2020β Residue 28
NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)Likely pathogenic
Hypertrophic cardiomyopathy 1;Elevated circulating creatine kinase concentration;Long QT syndrome 9;Rippling muscle disease 2;Distal myopathy, Tateyama type
β
βββ2019β Residue 100
NC_000003.12:g.(?_8733867)_(8745877_?)delPathogenic
Long QT syndrome
β
βββ2019
NM_033337.3(CAV3):c.366dup (p.Leu123fs)Likely pathogenic
not provided
β
βββ2016β Residue 123
NM_033337.3(CAV3):c.137C>T (p.Ala46Val)Likely pathogenic
Rippling muscle disease 2|not provided
β
βββ2016β Residue 46
NM_033337.3(CAV3):c.251T>C (p.Leu84Pro)Likely pathogenic
not provided
β
βββ2014β Residue 84