| RS2533893337 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533893375 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533894081 |
DSP
|
Health Risk |
Likely pathogenic |
Keratosis palmoplantaris striata 2, Keratosis palmoplantaris striata 2 |
| RS2533894086 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Global developmental delay, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533894106 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533894237 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2533894416 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533895492 |
NHLRC1
|
Health Risk |
Pathogenic |
— |
| RS2533896147 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533896412 |
NHLRC1
|
Health Risk |
Pathogenic |
Lafora disease, Lafora disease |
| RS2533896507 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533896908 |
NHLRC1
|
Health Risk |
Pathogenic |
Lafora disease, Lafora disease |
| RS2533897120 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533897220 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533897871 |
NHLRC1
|
Health Risk |
Pathogenic |
Lafora disease, Lafora disease |
| RS2533903254 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533903318 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533903322 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533903370 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533903647 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533903858 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533903877 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533903987 |
DSP
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, dilated |
| RS2533905979 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533908578 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533908914 |
DSP
|
Health Risk |
Pathogenic |
— |
| RS2533908971 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2533909271 |
DSP
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2533909283 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533909416 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2533910289 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2533910715 |
CTNNA1
|
Health Risk |
Pathogenic |
— |
| RS2533911099 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533911411 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2533911529 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533911715 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533911780 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2533911801 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533911853 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy |
| RS2533912629 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533913261 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2533913945 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533914000 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533915465 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2533916717 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533917192 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533917198 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533917216 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533917665 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2533918431 |
DNAH8
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2533919723 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533919757 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533919967 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533922225 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533922279 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533922607 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533923368 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533923421 |
CTNNA1
|
Health Risk |
Likely pathogenic |
CTNNA1-related disorder, CTNNA1-related disorder |
| RS2533923696 |
DSP
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2533923720 |
DSP
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2533923939 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS2533923956 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533924089 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533924188 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533924243 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533924874 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2533924886 |
DSP
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2533924905 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533925243 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2533925850 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS2533926297 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533926317 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533926336 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533926346 |
DSP
|
Health Risk |
Pathogenic |
— |
| RS2533926569 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533926671 |
DSP
|
Health Risk |
Likely pathogenic |
— |
| RS2533926690 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2533926795 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533926973 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533927239 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533927331 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533927492 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533927884 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533927952 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2533928484 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533928557 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533928588 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533928788 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533928815 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533928871 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533928936 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533929104 |
DSP
|
Health Risk |
Pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2533929133 |
DSP
|
Health Risk |
Pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2533929312 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2533929436 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533929501 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533929954 |
DSP
|
Health Risk |
Likely pathogenic |
— |
| RS2533930254 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy |
| RS2533930676 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8 |
| RS2533930691 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |