| RS2466073768 |
FAM161A
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466073838 |
FAM161A
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466073952 |
FAM161A
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466074220 |
FAM161A
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 28, Retinitis pigmentosa 28 |
| RS2466074266 |
FAM161A
|
Health Risk |
Pathogenic |
— |
| RS2466074414 |
FAM161A
|
Health Risk |
Pathogenic |
— |
| RS2466082798 |
GFPT1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2466091306 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466091383 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466091646 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466091816 |
ALMS1
|
Health Risk |
Pathogenic |
— |
| RS2466091915 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466092302 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466092307 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466092491 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466092629 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466092881 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466093446 |
PREPL
|
Health Risk |
Likely pathogenic |
Myasthenic syndrome, congenital |
| RS2466093899 |
ALMS1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2466094001 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466094345 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466094592 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466094627 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466094878 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466095122 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466095260 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466095271 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466095416 |
PREPL
|
Health Risk |
Pathogenic |
Myasthenic syndrome, congenital |
| RS2466095459 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466095962 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466096040 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466096319 |
ALMS1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2466096352 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466096436 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466096633 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466097334 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466097572 |
ALMS1
|
Health Risk |
Likely pathogenic |
ALMS1-related disorder, ALMS1-related disorder |
| RS2466097825 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466097919 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466098540 |
ALMS1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2466098663 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466099139 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466099194 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466099392 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466099623 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466099658 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466099694 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466099701 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Cardiovascular phenotype |
| RS2466099788 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466099885 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466099992 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466100644 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466101228 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466101288 |
ALMS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466101333 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466101388 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466101466 |
ALMS1
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2466102230 |
SLC5A6
|
Health Risk |
Likely pathogenic |
Neurodegeneration, infantile-onset |
| RS2466102298 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466102505 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466102995 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466103413 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466104220 |
ALMS1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Alstrom syndrome |
| RS2466104326 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466104360 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466104633 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466105042 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466105501 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466105724 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466105917 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106080 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106228 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106273 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106332 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106355 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106443 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106564 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106587 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106666 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106782 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106791 |
ALMS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466106833 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466107252 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466107330 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466107635 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466108210 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466108287 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466108557 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466108740 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466108824 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466109263 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466109511 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466109981 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466110362 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466110589 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466110939 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466110974 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466111790 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS2466112542 |
ALMS1
|
Health Risk |
Pathogenic |
ALMS1-related disorder, ALMS1-related disorder |
| RS2466115526 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |