| RS727503010 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727503011 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727503022 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503023 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503024 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503026 |
ELN
|
Health Risk |
Likely pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503027 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503028 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503029 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503030 |
ELN
|
Health Risk |
Conflicting classifications of pathogenicity |
Supravalvar aortic stenosis, Hypertelorism |
| RS727503031 |
ELN
|
Health Risk |
Likely pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503032 |
ELN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503033 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503034 |
ELN
|
Health Risk |
Pathogenic/Likely pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503035 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS727503036 |
EMD
|
Health Risk |
Pathogenic |
Neuromuscular disease, Emery-Dreifuss muscular dystrophy |
| RS727503041 |
ESRRB
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727503042 |
EYA1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Branchiootic syndrome 1 |
| RS727503047 |
EYA1
|
Health Risk |
Pathogenic |
Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS727503048 |
EYA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Melnick-Fraser syndrome, Branchiootic syndrome 1 |
| RS727503049 |
EYA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Branchiootic syndrome 1, Otofaciocervical syndrome 1 |
| RS727503054 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, 6 conditions |
| RS727503055 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS727503056 |
FBN1
|
Health Risk |
Likely pathogenic |
Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS727503057 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS727503058 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS727503062 |
GIPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 15 |
| RS727503066 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, 8 conditions |
| RS727503069 |
GJB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 2B |
| RS727503072 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS727503074 |
ADGRV1
|
Health Risk |
Pathogenic/Likely pathogenic |
ADGRV1-related disorder, ADGRV1-related disorder |
| RS727503075 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503076 |
ADGRV1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727503078 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503080 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2C, Usher syndrome type 2C |
| RS727503082 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503093 |
HRAS
|
Health Risk |
Likely pathogenic |
Non-small cell lung carcinoma, Costello syndrome |
| RS727503094 |
HRAS
|
Health Risk |
Pathogenic |
Costello syndrome, Costello syndrome |
| RS727503106 |
KRAS
|
Health Risk |
Likely pathogenic |
Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS727503107 |
KRAS
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, RASopathy |
| RS727503108 |
KRAS
|
Health Risk |
Conflicting classifications of pathogenicity |
Non-small cell lung carcinoma, Noonan syndrome |
| RS727503109 |
KRAS
|
Health Risk |
Pathogenic/Likely pathogenic |
RASopathy, Cardio-facio-cutaneous syndrome |
| RS727503110 |
KRAS
|
Health Risk |
Likely pathogenic |
Noonan syndrome, RASopathy |
| RS727503113 |
LAMA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1JJ, Cardiovascular phenotype |
| RS727503115 |
LAMA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS727503116 |
LAMA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS727503118 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Hypertrophic cardiomyopathy |
| RS727503119 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Thyroid cancer |
| RS727503120 |
LAMP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Danon disease, Hypertrophic cardiomyopathy |
| RS727503121 |
LAMP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Danon disease, Danon disease |
| RS727503123 |
LDB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Myofibrillar myopathy 4, Dilated cardiomyopathy 1C |
| RS727503126 |
LDB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Myofibrillar myopathy 4, Myofibrillar myopathy 4 |
| RS727503129 |
LDB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Myofibrillar myopathy 4 |
| RS727503132 |
LDB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Myofibrillar myopathy 4, Cardiovascular phenotype |
| RS727503136 |
LMNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2 |
| RS727503137 |
LMNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Charcot-Marie-Tooth disease type 2 |
| RS727503146 |
LOXHD1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727503147 |
LOXHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder |
| RS727503153 |
LRTOMT
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727503157 |
MARVELD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727503166 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiomyopathy, Cardiovascular phenotype |
| RS727503167 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503171 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503172 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS727503174 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503175 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503176 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503177 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503178 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503180 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727503181 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503182 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503184 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503186 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727503187 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503188 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS727503189 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727503191 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy |
| RS727503192 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS727503194 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727503195 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS727503196 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS727503197 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503202 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS727503203 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503204 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS727503205 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503207 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727503209 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503210 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503211 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503212 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503213 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727503216 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503217 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503219 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503220 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503225 |
MYH14
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 4A, Hepatocellular carcinoma |
| RS727503228 |
MYH14
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727503235 |
MYH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 14, Cardiomyopathy |