| RS2502501476 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502501518 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502501558 |
TGM1
|
Health Risk |
Likely pathogenic |
— |
| RS2502501563 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502501593 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502501603 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502501739 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502501800 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502501902 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502501924 |
TGM1
|
Health Risk |
Likely pathogenic |
— |
| RS2502501969 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502503044 |
TGM1
|
Health Risk |
Likely pathogenic |
— |
| RS2502503125 |
TGM1
|
Health Risk |
Likely pathogenic |
— |
| RS2502503175 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502503368 |
TGM1
|
Health Risk |
Likely pathogenic |
— |
| RS2502503425 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502503984 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502503991 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502504115 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502504291 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502505462 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502505581 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502505636 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502505774 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502505831 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502505952 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502506005 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502506183 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502506220 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502507740 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502507759 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502507826 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502507900 |
SYNE1
|
Health Risk |
Likely pathogenic |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
| RS2502507903 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502507973 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502508014 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502508287 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, TGM1-related disorder |
| RS2502508313 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502508389 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502509104 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502509234 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502509645 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502517059 |
L2HGDH
|
Health Risk |
Likely pathogenic |
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2502522706 |
L2HGDH
|
Health Risk |
Pathogenic |
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2502522773 |
AP4S1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52 |
| RS2502523912 |
NRL
|
Health Risk |
Pathogenic |
— |
| RS2502559210 |
NBEA
|
Health Risk |
Pathogenic |
— |
| RS2502576504 |
BMP4
|
Health Risk |
Likely pathogenic |
Irido-corneo-trabecular dysgenesis, Irido-corneo-trabecular dysgenesis |
| RS2502579467 |
CFL2
|
Health Risk |
Pathogenic |
Nemaline myopathy 7, Nemaline myopathy 7 |
| RS2502584237 |
BMP4
|
Health Risk |
Pathogenic |
See cases, See cases |
| RS2502585093 |
BMP4
|
Health Risk |
Likely pathogenic |
Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies |
| RS2502591946 |
BMP4
|
Health Risk |
Pathogenic |
See cases, See cases |
| RS2502592704 |
BMP4
|
Health Risk |
Pathogenic |
— |
| RS2502625327 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502625649 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502626035 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502626171 |
NKX2-1
|
Health Risk |
Pathogenic/Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502626225 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502626316 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Benign hereditary chorea, Benign hereditary chorea |
| RS2502626374 |
NKX2-1
|
Health Risk |
Pathogenic |
NKX2-1-related disorder, NKX2-1-related disorder |
| RS2502626546 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502626902 |
NKX2-1
|
Health Risk |
Pathogenic |
— |
| RS2502627258 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502628432 |
NKX2-1
|
Health Risk |
Likely pathogenic |
— |
| RS2502628568 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502628616 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502628677 |
NKX2-1
|
Health Risk |
Pathogenic |
— |
| RS2502629005 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502629085 |
NKX2-1
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2502629225 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502629445 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502629609 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502629750 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Benign hereditary chorea, Benign hereditary chorea |
| RS2502630122 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502630215 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502632564 |
WASHC4
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal recessive 43 |
| RS2502634404 |
NKX2-1
|
Health Risk |
Pathogenic |
— |
| RS2502634439 |
NKX2-1
|
Health Risk |
Pathogenic |
— |
| RS2502634520 |
NKX2-1
|
Health Risk |
Pathogenic |
Benign hereditary chorea, Benign hereditary chorea |
| RS2502634723 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502634899 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502635123 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502635574 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Benign hereditary chorea, Benign hereditary chorea |
| RS2502635934 |
NKX2-1
|
Health Risk |
Pathogenic |
— |
| RS2502635970 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502636075 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS2502639357 |
SIX1
|
Health Risk |
Likely pathogenic |
Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS2502643576 |
SIX1
|
Health Risk |
Likely pathogenic |
Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS2502643915 |
SIX1
|
Health Risk |
Likely pathogenic |
Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS2502643946 |
SIX1
|
Health Risk |
Conflicting classifications of pathogenicity |
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS2502644085 |
SIX1
|
Health Risk |
Pathogenic |
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS2502644174 |
SIX1
|
Health Risk |
Pathogenic |
Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS2502650416 |
ANK2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2502653172 |
KCNH5
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Early-infantile DEE |
| RS2502654819 |
KCNH5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 12 |
| RS2502674313 |
RPGRIP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2502685643 |
WASHC4
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal recessive 43 |
| RS2502690278 |
RPGRIP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2502690439 |
RPGRIP1
|
Health Risk |
Pathogenic |
— |
| RS2502705961 |
RPGRIP1
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 6, Leber congenital amaurosis 6 |