| RS1575624578 |
KIF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Hereditary spastic paraplegia 30 |
| RS1575624664 |
KIF1A
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS1575626071 |
KIF1A
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory |
| RS1575628744 |
NBEAL2
|
Health Risk |
Likely pathogenic |
Gray platelet syndrome, Gray platelet syndrome |
| RS1575628928 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1575629721 |
NBEAL2
|
Health Risk |
Pathogenic |
Gray platelet syndrome, Gray platelet syndrome |
| RS1575630957 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575631130 |
CRELD1
|
Health Risk |
Pathogenic |
— |
| RS1575631836 |
KIF1A
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS1575632112 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1575632215 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575633082 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575637048 |
KIF1A
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 30, KIF1A-related disorder |
| RS1575639851 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1575639882 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1575640892 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1575640960 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1575641138 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1575641243 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS1575647025 |
RHOA
|
Health Risk |
Pathogenic |
Ectodermal dysplasia with facial dysmorphism and acral, ocular |
| RS1575649368 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, 6 conditions |
| RS1575650389 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS1575650682 |
CRELD1
|
Health Risk |
Likely pathogenic |
Atrioventricular septal defect, susceptibility to |
| RS1575653015 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575653629 |
RHOA
|
Health Risk |
Pathogenic |
neuro-ectodermal phenotype, Ectodermal dysplasia with facial dysmorphism and acral |
| RS1575654528 |
KIF1A
|
Health Risk |
Likely pathogenic |
Neuropathy, hereditary sensory |
| RS1575658959 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575663327 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS1575663530 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575665426 |
TTN
|
Health Risk |
Pathogenic |
— |
| RS1575668113 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1575670635 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575671618 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575673206 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575674631 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS1575680127 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575685597 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575696646 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1575703249 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Conduction disorder of the heart, Conduction disorder of the heart |
| RS1575705549 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiac arrhythmia, Cardiovascular phenotype |
| RS1575706847 |
SCN5A
|
Health Risk |
Likely pathogenic |
Brugada syndrome 1, Brugada syndrome 1 |
| RS1575707182 |
AGXT
|
Health Risk |
Pathogenic |
— |
| RS1575709864 |
AGXT
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type I |
| RS1575711244 |
AGXT
|
Health Risk |
Pathogenic |
— |
| RS1575714442 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575714693 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1575714905 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS1575716932 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575719863 |
SCN5A
|
Health Risk |
Likely pathogenic |
Brugada syndrome, Brugada syndrome |
| RS1575723664 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia |
| RS1575728590 |
SCN5A
|
Health Risk |
Likely pathogenic |
— |
| RS1575741313 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Squamous cell carcinoma of the head and neck |
| RS1575744958 |
SETD2
|
Health Risk |
Pathogenic |
Luscan-Lumish syndrome, Luscan-Lumish syndrome |
| RS1575751854 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Brugada syndrome 1 |
| RS1575756767 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575756800 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575757812 |
FOXP1
|
Health Risk |
Likely pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1575769723 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575772360 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575772888 |
TTN-AS1;TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575773471 |
SCN5A
|
Health Risk |
Pathogenic |
— |
| RS1575775337 |
TTN
|
Health Risk |
Pathogenic |
Primary familial dilated cardiomyopathy, Cardiovascular phenotype |
| RS1575780854 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575782181 |
GBE1
|
Health Risk |
Pathogenic |
Glycogen storage disease IV, combined hepatic and myopathic |
| RS1575793682 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575796530 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS1575797171 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575798009 |
FOXP1
|
Health Risk |
Pathogenic |
— |
| RS1575799625 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575800019 |
TTN
|
Health Risk |
Likely pathogenic |
Interstitial cardiac fibrosis, Interstitial cardiac fibrosis |
| RS1575800407 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiac arrhythmia, Cardiac arrhythmia |
| RS1575803923 |
FOXP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1575806033 |
FOXP1
|
Health Risk |
Likely pathogenic |
— |
| RS1575806352 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1575817869 |
SETD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Luscan-Lumish syndrome, Inborn genetic diseases |
| RS1575818503 |
SETD2
|
Health Risk |
Pathogenic |
— |
| RS1575821175 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575824608 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS1575826940 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575830499 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 1, Cardiac arrhythmia |
| RS1575831755 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575832346 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575853007 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 1, Cardiovascular phenotype |
| RS1575853060 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575854773 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575872984 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575883384 |
BAZ2B
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1575895541 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1575895799 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS1575897069 |
NEB
|
Health Risk |
Conflicting classifications of pathogenicity |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1575904540 |
PROS1
|
Health Risk |
Likely pathogenic |
Protein S deficiency disease, Thrombophilia due to protein S deficiency |
| RS1575921187 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575921446 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1575921544 |
VHL
|
Health Risk |
Likely pathogenic |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1575922124 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1575922271 |
VHL
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575922296 |
VHL
|
Health Risk |
Pathogenic |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1575922562 |
VHL
|
Health Risk |
Pathogenic |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1575922597 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1575922613 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |