| RS2502236905 |
PAX9
|
Health Risk |
Likely pathogenic |
Tooth agenesis, selective |
| RS2502236933 |
PAX9
|
Health Risk |
Pathogenic |
PAX9-related disorder, PAX9-related disorder |
| RS2502237209 |
PAX9
|
Health Risk |
Likely pathogenic |
Tooth agenesis, selective |
| RS2502237560 |
ZMYM2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2502237653 |
PAX9
|
Health Risk |
Pathogenic |
Hypodontia, Hypodontia |
| RS2502237777 |
PAX9
|
Health Risk |
Likely pathogenic |
Tooth agenesis, selective |
| RS2502238046 |
PAX9
|
Health Risk |
Likely pathogenic |
Tooth agenesis, selective |
| RS2502238080 |
PAX9
|
Health Risk |
Likely pathogenic |
Tooth agenesis, selective |
| RS2502238210 |
PAX9
|
Health Risk |
Likely pathogenic |
Tooth agenesis, selective |
| RS2502238228 |
ZMYM2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2502238593 |
ZMYM2
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2502238740 |
PAX9
|
Health Risk |
Likely pathogenic |
PAX9-related disorder, PAX9-related disorder |
| RS2502239143 |
PAX9
|
Health Risk |
Pathogenic |
Hypodontia, Hypodontia |
| RS2502241335 |
MYH7
|
Health Risk |
Likely pathogenic |
Myosin storage myopathy, Myosin storage myopathy |
| RS2502241506 |
ZMYM2
|
Health Risk |
Likely pathogenic |
ZMYM2-related disorder, ZMYM2-related disorder |
| RS2502241547 |
MYH7
|
Health Risk |
Likely pathogenic |
Myosin storage myopathy, Myosin storage myopathy |
| RS2502241927 |
ZMYM2
|
Health Risk |
Pathogenic |
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2502242173 |
ZMYM2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2502244247 |
MHRT;MIR208B;LOC126861897;MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS2502245564 |
PAX9
|
Health Risk |
Pathogenic |
Oligodontia, Oligodontia |
| RS2502246201 |
PAX9
|
Health Risk |
Pathogenic |
Oligodontia, Oligodontia |
| RS2502248530 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502249400 |
NBEA
|
Health Risk |
Pathogenic |
— |
| RS2502249759 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502249883 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502251571 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1 |
| RS2502252310 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS2502263765 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS2502267986 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS2502268225 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS2502272014 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2502280494 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS2502283800 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502284266 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502285451 |
GRIP1
|
Health Risk |
Pathogenic |
— |
| RS2502285709 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS2502287866 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2502289272 |
MYH7
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2502294654 |
MYH7
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2502296670 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy 1 |
| RS2502297471 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502297639 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS2502299901 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502303287 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502303394 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS2502308702 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502308912 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502317523 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2502317692 |
MYH7
|
Health Risk |
Likely pathogenic |
— |
| RS2502367984 |
ZMYM2
|
Health Risk |
Likely pathogenic |
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2502371902 |
ZMYM2
|
Health Risk |
Likely pathogenic |
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2502388612 |
AP4S1
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2502415169 |
SYNE1
|
Health Risk |
Likely pathogenic |
— |
| RS2502426255 |
SYNE1
|
Health Risk |
Likely pathogenic |
— |
| RS2502433367 |
CIT
|
Health Risk |
Pathogenic |
— |
| RS2502433914 |
CIT
|
Health Risk |
Pathogenic |
— |
| RS2502448999 |
PYGL
|
Health Risk |
Pathogenic |
Glycogen storage disease, type VI |
| RS2502452053 |
NALCN
|
Health Risk |
Pathogenic |
Hypotonia, infantile |
| RS2502455630 |
TINF2
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, Dyskeratosis congenita |
| RS2502455736 |
TINF2
|
Health Risk |
Likely pathogenic |
TINF2-related disorder, TINF2-related disorder |
| RS2502455869 |
TINF2
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, Dyskeratosis congenita |
| RS2502456306 |
TINF2
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, Dyskeratosis congenita |
| RS2502458156 |
TINF2
|
Health Risk |
Likely pathogenic |
— |
| RS2502459528 |
TINF2
|
Health Risk |
Pathogenic |
Long telomere syndrome, Long telomere syndrome |
| RS2502464213 |
ANK2
|
Health Risk |
Likely pathogenic |
— |
| RS2502468974 |
TINF2
|
Health Risk |
Pathogenic |
Long telomere syndrome, Long telomere syndrome |
| RS2502472420 |
L2HGDH
|
Health Risk |
Pathogenic/Likely pathogenic |
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS2502472725 |
GRIP1
|
Health Risk |
Likely pathogenic |
— |
| RS2502484629 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502484634 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502491794 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502491950 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502491954 |
TGM1
|
Health Risk |
Likely pathogenic |
— |
| RS2502493168 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502493201 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502493778 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502493803 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502494014 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502494136 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502494261 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502494296 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502494374 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502494768 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502494799 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502494887 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502494955 |
TGM1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2502495143 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502496203 |
TGM1
|
Health Risk |
Likely pathogenic |
Lamellar ichthyosis, Lamellar ichthyosis |
| RS2502496221 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502496232 |
TGM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502496346 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502496349 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502496441 |
TGM1
|
Health Risk |
Likely pathogenic |
— |
| RS2502499460 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502499539 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502500054 |
TGM1
|
Health Risk |
Pathogenic |
— |
| RS2502500080 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502500172 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502500294 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502500377 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |