| RS2048317403 |
PHKA2
|
Health Risk |
Pathogenic |
Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS2048322542 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS2048324730 |
AP3B2
|
Health Risk |
Likely pathogenic |
— |
| RS2048330550 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Lissencephaly, Lissencephaly |
| RS2048347685 |
GRN
|
Health Risk |
Pathogenic |
— |
| RS2048353899 |
GRN
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS2048359069 |
GRN
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS2048372980 |
GRN
|
Health Risk |
Likely pathogenic |
GRN-related disorder, GRN-related disorder |
| RS2048375787 |
PCDH15
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23 |
| RS2048382403 |
LARP7
|
Health Risk |
Likely pathogenic |
— |
| RS2048383082 |
PCDH15
|
Health Risk |
Pathogenic |
— |
| RS2048384991 |
GRN
|
Health Risk |
Pathogenic |
— |
| RS2048391185 |
PHKA2
|
Health Risk |
Likely pathogenic |
Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS2048393116 |
LARP7
|
Health Risk |
Likely pathogenic |
— |
| RS2048401628 |
TANGO2
|
Health Risk |
Likely pathogenic |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Acute rhabdomyolysis |
| RS2048424649 |
TIMP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS2048463341 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 13 |
| RS2048464266 |
TANC2
|
Health Risk |
Pathogenic |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Autism spectrum disorder |
| RS2048468500 |
TIMP3
|
Health Risk |
Pathogenic |
— |
| RS2048494505 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS2048494596 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS2048495457 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS2048496443 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS2048499808 |
TANC2
|
Health Risk |
Likely pathogenic |
— |
| RS2048501596 |
TANC2
|
Health Risk |
Likely pathogenic |
— |
| RS2048501764 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2048502560 |
RAD51C
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2048504402 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048519381 |
DYNC1H1
|
Health Risk |
Pathogenic |
Lissencephaly, Seizure |
| RS2048521407 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048521625 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS2048521744 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048523431 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048524687 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048531389 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
— |
| RS2048534441 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048535487 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS2048535976 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048538273 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048539289 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048541187 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Gastric cancer |
| RS2048544264 |
MYT1L
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS2048546542 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS2048550327 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048550784 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048557402 |
ITGA2B
|
Health Risk |
Pathogenic |
Abnormal bleeding, Thrombocytopenia |
| RS2048557642 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048560568 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2048567077 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2048578129 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048578300 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lissencephaly, Charcot-Marie-Tooth disease axonal type 2O |
| RS2048581747 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048583710 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048585829 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS2048587538 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048590205 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2048591163 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048592296 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048609833 |
LARP7
|
Health Risk |
Pathogenic |
— |
| RS2048611744 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Lissencephaly, Lissencephaly |
| RS2048613694 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048615415 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048615633 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048616842 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS2048619428 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS2048619898 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048619921 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048627164 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048628868 |
PHKA2
|
Health Risk |
Likely pathogenic |
— |
| RS2048632055 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048632227 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048632306 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 13 |
| RS2048632400 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048635392 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2048635467 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048635741 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048639566 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048639927 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048640485 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia 1, Glanzmann thrombasthenia |
| RS2048640591 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048640612 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048641442 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048642260 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048643952 |
ITGA2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048645725 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Platelet-type bleeding disorder 16 |
| RS2048646082 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia 1 |
| RS2048646560 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048654277 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2048669411 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 1 |
| RS2048674698 |
LARP7
|
Health Risk |
Likely pathogenic |
Microcephalic primordial dwarfism, Alazami type |
| RS2048678209 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048678902 |
ITGA2B
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia |
| RS2048679372 |
ITGA2B
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia 1, Glanzmann thrombasthenia |
| RS2048682045 |
ARX
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 1 |
| RS2048682677 |
ARX
|
Health Risk |
Pathogenic |
— |
| RS2048682798 |
ARX
|
Health Risk |
Pathogenic |
X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS2048683301 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 1 |
| RS2048688941 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2O, DYNC1H1-related disorder |
| RS2048703168 |
TANC2
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS2048707664 |
TANC2
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |