| RS2106869182 |
FOXP1
|
Health Risk |
Likely pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2106869587 |
GBE1
|
Health Risk |
Pathogenic |
Glycogen storage disease IV, classic hepatic |
| RS2106869758 |
FOXP1
|
Health Risk |
Pathogenic |
— |
| RS2106870085 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2106872055 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2106872434 |
GBE1
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type IV |
| RS2106903188 |
QRICH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106903309 |
QRICH1
|
Health Risk |
Pathogenic |
Ververi-Brady syndrome, Inborn genetic diseases |
| RS2106903534 |
QRICH1
|
Health Risk |
Pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106903855 |
QRICH1
|
Health Risk |
Likely pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106904799 |
QRICH1
|
Health Risk |
Pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106904870 |
QRICH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106905056 |
QRICH1
|
Health Risk |
Likely pathogenic |
Intellectual disability, Ververi-Brady syndrome |
| RS2106905360 |
QRICH1
|
Health Risk |
Pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106905658 |
QRICH1
|
Health Risk |
Likely pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106906092 |
QRICH1
|
Health Risk |
Likely pathogenic |
— |
| RS2106906600 |
QRICH1
|
Health Risk |
Pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106907255 |
QRICH1
|
Health Risk |
Pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106910461 |
MYL3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8 |
| RS2106927025 |
POU1F1
|
Health Risk |
Likely pathogenic |
Pituitary hormone deficiency, combined |
| RS2106933976 |
GBE1
|
Health Risk |
Likely pathogenic |
Cutis laxa, autosomal recessive |
| RS2106938514 |
GBE1
|
Health Risk |
Pathogenic |
Glycogen storage disease, type IV |
| RS2106938620 |
GBE1
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type IV |
| RS2106938660 |
GBE1
|
Health Risk |
Likely pathogenic |
Glycogen storage disease IV, classic hepatic |
| RS2106940833 |
POU1F1
|
Health Risk |
Pathogenic |
Pituitary hormone deficiency, combined |
| RS2106940845 |
POU1F1
|
Health Risk |
Pathogenic |
Pituitary hormone deficiency, combined |
| RS2106940848 |
POU1F1
|
Health Risk |
Pathogenic |
Pituitary hormone deficiency, combined |
| RS2106940851 |
POU1F1
|
Health Risk |
Pathogenic |
Pituitary hormone deficiency, combined |
| RS2106946273 |
WNT5A
|
Health Risk |
Likely pathogenic |
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS2106946911 |
FLNB
|
Health Risk |
Likely pathogenic |
— |
| RS2106947027 |
FLNB
|
Health Risk |
Likely pathogenic |
Connective tissue disorder, Connective tissue disorder |
| RS2106952056 |
FLNB
|
Health Risk |
Likely pathogenic |
— |
| RS2106952084 |
FLNB
|
Health Risk |
Pathogenic |
— |
| RS2106955417 |
WNT5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS2106957076 |
GBE1
|
Health Risk |
Pathogenic |
Glycogen storage disease, type IV |
| RS2106966046 |
FLNB
|
Health Risk |
Likely pathogenic |
— |
| RS2106974869 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2106977254 |
FOXP1
|
Health Risk |
Pathogenic |
— |
| RS2106983258 |
QRICH1
|
Health Risk |
Pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2106983539 |
QRICH1
|
Health Risk |
Likely pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS2107015478 |
PRICKLE2
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2107035467 |
PTH1R
|
Health Risk |
Pathogenic |
Primary failure of tooth eruption, Primary failure of tooth eruption |
| RS2107039234 |
PTH1R
|
Health Risk |
Pathogenic |
Primary failure of tooth eruption, Primary failure of tooth eruption |
| RS2107040144 |
PTH1R
|
Health Risk |
Likely pathogenic |
Pseudohypoparathyroidism, Pseudohypoparathyroidism |
| RS2107055197 |
PTH1R
|
Health Risk |
Pathogenic |
Chondrodysplasia Blomstrand type, Chondrodysplasia Blomstrand type |
| RS2107059544 |
GBE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type IV |
| RS2107059792 |
GBE1
|
Health Risk |
Pathogenic |
Glycogen storage disease, type IV |
| RS2107062364 |
FLNB
|
Health Risk |
Pathogenic |
Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2107072252 |
GBE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycogen storage disease IV, classic hepatic |
| RS2107074878 |
GBE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type IV |
| RS2107082636 |
FLNB
|
Health Risk |
Pathogenic |
Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2107090466 |
CACNA2D2
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2107090748 |
POC1A
|
Health Risk |
Likely pathogenic |
See cases, POC1A-related disorder |
| RS2107092260 |
FLNB
|
Health Risk |
Pathogenic |
Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2107094933 |
RFT1
|
Health Risk |
Likely pathogenic |
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS2107095933 |
QARS1
|
Health Risk |
Likely pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107099019 |
QARS1
|
Health Risk |
Pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107100555 |
QARS1
|
Health Risk |
Pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107101318 |
QARS1
|
Health Risk |
Likely pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107102230 |
QARS1
|
Health Risk |
Pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107108875 |
QARS1
|
Health Risk |
Likely pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107109028 |
QARS1
|
Health Risk |
Likely pathogenic |
— |
| RS2107111037 |
QARS1
|
Health Risk |
Pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107111639 |
ARL13B
|
Health Risk |
Pathogenic |
Joubert syndrome 8, Joubert syndrome 8 |
| RS2107111718 |
QARS1
|
Health Risk |
Pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107112006 |
QARS1
|
Health Risk |
Likely pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107113374 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2107113481 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2107113697 |
FOXP1
|
Health Risk |
Likely pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2107113853 |
CPOX
|
Health Risk |
Pathogenic |
Coproporphyria, Coproporphyria |
| RS2107113882 |
CPOX
|
Health Risk |
Pathogenic |
— |
| RS2107114808 |
GBE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type IV |
| RS2107114812 |
GBE1
|
Health Risk |
Pathogenic |
Glycogen storage disease IV, classic hepatic |
| RS2107114825 |
GBE1
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type IV |
| RS2107120174 |
PROS1
|
Health Risk |
Likely pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS2107120223 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal recessive |
| RS2107120227 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal recessive |
| RS2107120273 |
CPOX
|
Health Risk |
Pathogenic |
— |
| RS2107124949 |
PROS1
|
Health Risk |
Likely pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS2107125195 |
PROS1
|
Health Risk |
Pathogenic |
Protein S deficiency disease, Hereditary thrombophilia due to congenital protein S deficiency |
| RS2107126016 |
CPOX
|
Health Risk |
Pathogenic |
— |
| RS2107126517 |
IMPG2
|
Health Risk |
Likely pathogenic |
— |
| RS2107130847 |
FLNB
|
Health Risk |
Likely pathogenic |
— |
| RS2107131377 |
CPOX
|
Health Risk |
Pathogenic |
— |
| RS2107137264 |
CPOX
|
Health Risk |
Pathogenic |
— |
| RS2107137562 |
CPOX
|
Health Risk |
Pathogenic |
— |
| RS2107137626 |
PROS1
|
Health Risk |
Likely pathogenic |
Protein S deficiency disease, Thrombophilia due to protein S deficiency |
| RS2107137679 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS2107148743 |
IMPG2
|
Health Risk |
Pathogenic |
— |
| RS2107148760 |
IMPG2
|
Health Risk |
Pathogenic |
— |
| RS2107150039 |
PROS1
|
Health Risk |
Likely pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS2107152691 |
ARL13B
|
Health Risk |
Pathogenic |
Joubert syndrome 8, Joubert syndrome 8 |
| RS2107155481 |
FOXP1
|
Health Risk |
Likely pathogenic |
Melanoma, Melanoma |
| RS2107156767 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2107157863 |
FOXP1
|
Health Risk |
Likely pathogenic |
— |
| RS2107158205 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal recessive |
| RS2107158284 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS2107168870 |
GBE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type IV |
| RS2107169014 |
GBE1
|
Health Risk |
Pathogenic |
Glycogen storage disease, type IV |
| RS2107170811 |
PROS1
|
Health Risk |
Likely pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |