| RS2113673375 |
PDE6A
|
Health Risk |
Pathogenic |
— |
| RS2113674180 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113674300 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113675360 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113677263 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113677479 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2113677528 |
DSP
|
Health Risk |
Likely pathogenic |
— |
| RS2113678808 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113679702 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113679761 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113679972 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113680129 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113682999 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113683109 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113683177 |
DSP
|
Health Risk |
Likely pathogenic |
Myocarditis, Myocarditis |
| RS2113683217 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113684096 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113684305 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113685159 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113686447 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113686466 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113686478 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113687612 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113687617 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113687794 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113687807 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113688859 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113688911 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113688929 |
DSP
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2113690064 |
DSP
|
Health Risk |
Pathogenic |
— |
| RS2113690997 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113691213 |
DSP
|
Health Risk |
Likely pathogenic |
Familial isolated arrhythmogenic right ventricular dysplasia, Familial isolated arrhythmogenic right ventricular dysplasia |
| RS2113691528 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113691557 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113691650 |
DSP
|
Health Risk |
Pathogenic |
— |
| RS2113691766 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113691774 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113691887 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113692122 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113692133 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113692208 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113692271 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113692562 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113692628 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113693785 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113693861 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113694068 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113694076 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113694085 |
DSP
|
Health Risk |
Likely pathogenic |
— |
| RS2113694437 |
DSP
|
Health Risk |
Pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2113694449 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113694673 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113694704 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113694794 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113694822 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113695145 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113695398 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113695431 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113695485 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113695509 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113695514 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113695568 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113695746 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113695996 |
RIPK1
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2113695999 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113696088 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113697665 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Diastrophic dysplasia, Diastrophic dysplasia |
| RS2113697846 |
DSP
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, dilated |
| RS2113697854 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113697914 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113698201 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113698329 |
SLC26A2
|
Health Risk |
Pathogenic |
Diastrophic dysplasia, Achondrogenesis |
| RS2113698410 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113698485 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Achondrogenesis, type IB |
| RS2113698511 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113698521 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Multiple epiphyseal dysplasia type 4, Achondrogenesis |
| RS2113698529 |
SLC26A2
|
Health Risk |
Pathogenic |
— |
| RS2113698643 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Diastrophic dysplasia, Diastrophic dysplasia |
| RS2113698650 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Atelosteogenesis type II, Atelosteogenesis type II |
| RS2113698710 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113698797 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113698812 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Connective tissue disorder, Multiple epiphyseal dysplasia type 4 |
| RS2113698845 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Achondrogenesis, type IB |
| RS2113698863 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113698870 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Achondrogenesis, type IB |
| RS2113698912 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113698924 |
SLC26A2
|
Health Risk |
Pathogenic |
Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4 |
| RS2113699015 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS2113699101 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Achondrogenesis, type IB |
| RS2113699112 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113699152 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113699208 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113699214 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113699280 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS2113699284 |
SLC26A2
|
Health Risk |
Pathogenic |
Achondrogenesis, type IB |
| RS2113699501 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113699563 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Diastrophic dysplasia, Achondrogenesis |
| RS2113699627 |
SLC26A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Achondrogenesis, type IB |
| RS2113699911 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS2113699991 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |