| RS2537917447 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537917551 |
ELP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Medulloblastoma, Familial dysautonomia |
| RS2537917798 |
ASAH1
|
Health Risk |
Likely pathogenic |
Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS2537923156 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537923192 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537923248 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537923357 |
ASAH1
|
Health Risk |
Pathogenic |
— |
| RS2537924600 |
DNAAF11
|
Health Risk |
Likely pathogenic |
— |
| RS2537925004 |
ASAH1
|
Health Risk |
Likely pathogenic |
— |
| RS2537926622 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537926785 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537926887 |
ELP1
|
Health Risk |
Likely pathogenic |
— |
| RS2537927812 |
KIF1A
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory |
| RS2537929480 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537930127 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537936285 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537936552 |
ELP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial dysautonomia, ELP1-Associated Medulloblastoma |
| RS2537936557 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537937458 |
ASAH1
|
Health Risk |
Likely pathogenic |
— |
| RS2537939654 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537939737 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537939949 |
ELP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Medulloblastoma, Familial dysautonomia |
| RS2537939987 |
ELP1
|
Health Risk |
Likely pathogenic |
— |
| RS2537942231 |
ELP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial dysautonomia, Medulloblastoma |
| RS2537942364 |
ELP1
|
Health Risk |
Pathogenic/Likely pathogenic |
ELP1-Associated Medulloblastoma, ELP1-Associated Medulloblastoma |
| RS2537942437 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537943393 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537943516 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537943532 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537943670 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537943735 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537943745 |
ELP1
|
Health Risk |
Likely pathogenic |
Medulloblastoma, Familial dysautonomia |
| RS2537947781 |
ASAH1
|
Health Risk |
Likely pathogenic |
Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS2537949763 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537949878 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537951645 |
DOCK8
|
Health Risk |
Likely pathogenic |
DOCK8-related disorder, DOCK8-related disorder |
| RS2537953068 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537953347 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537953461 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537955176 |
PLEC
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy |
| RS2537957328 |
KIF1A
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS2537957670 |
KIF1A
|
Health Risk |
Likely pathogenic |
— |
| RS2537958110 |
KIF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory |
| RS2537958746 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS2537962478 |
ASAH1
|
Health Risk |
Pathogenic |
— |
| RS2537963840 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537963867 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537964026 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537964241 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537964254 |
ELP1
|
Health Risk |
Likely pathogenic |
— |
| RS2537965574 |
RECQL4
|
Health Risk |
Likely pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537966940 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537966952 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537966954 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537967112 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS2537967205 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537967229 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537967411 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537968823 |
SYNCRIP
|
Health Risk |
Likely pathogenic |
SYNCRIP-associated neurodevelopmental disorder, SYNCRIP-associated neurodevelopmental disorder |
| RS2537971458 |
PGM3
|
Health Risk |
Pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS2537971729 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537972624 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537972709 |
DOCK8
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS2537973349 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537973738 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537974027 |
PGM3
|
Health Risk |
Pathogenic/Likely pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS2537974300 |
PGM3
|
Health Risk |
Pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS2537974775 |
ASAH1
|
Health Risk |
Likely pathogenic |
Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS2537974946 |
RECQL4
|
Health Risk |
Likely pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537977076 |
VPS13A
|
Health Risk |
Likely pathogenic |
— |
| RS2537977434 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537977573 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537978632 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537979837 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537979860 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Ehlers-Danlos syndrome |
| RS2537979982 |
VPS13A
|
Health Risk |
Likely pathogenic |
Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS2537980228 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537980642 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537981842 |
RECQL4
|
Health Risk |
Likely pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537981904 |
VPS13A
|
Health Risk |
Likely pathogenic |
— |
| RS2537983014 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537984222 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537984933 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537985403 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537987421 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537989491 |
RECQL4
|
Health Risk |
Likely pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537990692 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537991132 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537991796 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537991858 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537991917 |
VPS13A
|
Health Risk |
Pathogenic/Likely pathogenic |
Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS2537992540 |
AGTPBP1
|
Health Risk |
Likely pathogenic |
Neurodegeneration, childhood-onset |
| RS2537995070 |
VPS13A
|
Health Risk |
Likely pathogenic |
— |
| RS2537995662 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537995802 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2537996860 |
ASAH1
|
Health Risk |
Pathogenic |
— |
| RS2537997009 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2537997349 |
ASAH1
|
Health Risk |
Pathogenic |
— |
| RS2537997706 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538000129 |
PLEC
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 5B, with muscular dystrophy |