| RS2144625913 |
SMARCD2
|
Health Risk |
Pathogenic |
— |
| RS2144626634 |
SMARCD2
|
Health Risk |
Pathogenic |
— |
| RS2144629622 |
CACNA1A
|
Health Risk |
Pathogenic |
Migraine, familial hemiplegic |
| RS2144630306 |
SMARCD2
|
Health Risk |
Likely pathogenic |
Specific granule deficiency 2, Specific granule deficiency 2 |
| RS2144633398 |
SMARCD2
|
Health Risk |
Pathogenic |
Specific granule deficiency 2, Specific granule deficiency 2 |
| RS2144634829 |
SMARCD2
|
Health Risk |
Pathogenic |
— |
| RS2144636105 |
GAMT
|
Health Risk |
Conflicting classifications of pathogenicity |
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase |
| RS2144636198 |
GAMT
|
Health Risk |
Pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144636214 |
GAMT
|
Health Risk |
Pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144636246 |
GAMT
|
Health Risk |
Pathogenic |
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase |
| RS2144636453 |
GAMT
|
Health Risk |
Likely pathogenic |
Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase |
| RS2144636455 |
GAMT
|
Health Risk |
Pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144636587 |
NUP93
|
Health Risk |
Pathogenic |
— |
| RS2144636785 |
GAMT
|
Health Risk |
Pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144636856 |
GAMT
|
Health Risk |
Pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144637411 |
GAMT
|
Health Risk |
Pathogenic |
Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase |
| RS2144637533 |
GAMT
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase |
| RS2144637546 |
GAMT
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase |
| RS2144638033 |
GAMT
|
Health Risk |
Likely pathogenic |
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase |
| RS2144638048 |
GAMT
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase |
| RS2144638078 |
GAMT
|
Health Risk |
Pathogenic |
Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase |
| RS2144638122 |
GAMT
|
Health Risk |
Pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144639924 |
ADAMTS18
|
Health Risk |
Likely pathogenic |
— |
| RS2144640849 |
GAMT
|
Health Risk |
Pathogenic |
Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase |
| RS2144640856 |
GAMT
|
Health Risk |
Likely pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144640859 |
GAMT
|
Health Risk |
Likely pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144640900 |
GAMT
|
Health Risk |
Pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144641138 |
GAMT
|
Health Risk |
Likely pathogenic |
Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase |
| RS2144641532 |
GAMT
|
Health Risk |
Pathogenic |
Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome |
| RS2144645392 |
CIITA
|
Health Risk |
Likely pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2144646626 |
CACNA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 42 |
| RS2144647855 |
CACNA1A
|
Health Risk |
Likely pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2144647872 |
CACNA1A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 52 |
| RS2144647916 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2144648058 |
CACNA1A
|
Health Risk |
Likely pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2144649756 |
CACNA1A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 52 |
| RS2144662023 |
FDXR
|
Health Risk |
Likely pathogenic |
Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome |
| RS2144666888 |
ADGRL1
|
Health Risk |
Pathogenic |
Attention deficit hyperactivity disorder, Global developmental delay |
| RS2144672293 |
FA2H
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2144672539 |
FA2H
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS2144672568 |
FA2H
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS2144674023 |
TBCD
|
Health Risk |
Likely pathogenic |
— |
| RS2144674380 |
BRIP1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144674833 |
BRIP1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2144674947 |
TCF4
|
Health Risk |
Likely pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144675392 |
TCF4
|
Health Risk |
Likely pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144676461 |
TCF4
|
Health Risk |
Likely pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144677021 |
BRIP1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2144677625 |
BRIP1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2144677696 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144677775 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2144678137 |
SLC12A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144678308 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144678763 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS2144680456 |
BRIP1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2144681043 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144681220 |
DSC3
|
Health Risk |
Pathogenic |
Hereditary hypotrichosis with recurrent skin vesicles, Hereditary hypotrichosis with recurrent skin vesicles |
| RS2144682095 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2144682680 |
SLC12A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144682791 |
STAT3
|
Health Risk |
Pathogenic |
STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1 |
| RS2144683205 |
STAT3
|
Health Risk |
Likely pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS2144683531 |
STAT3
|
Health Risk |
Pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS2144683683 |
STAT3
|
Health Risk |
Pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS2144683812 |
STAT3
|
Health Risk |
Pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS2144688604 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2144689256 |
SGSH
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2144689378 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144689577 |
SLC12A3
|
Health Risk |
Pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144689801 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144691170 |
STAT3
|
Health Risk |
Pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS2144691319 |
STAT3
|
Health Risk |
Likely pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS2144691401 |
STAT3
|
Health Risk |
Pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS2144692159 |
SGSH
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-A |
| RS2144693969 |
PIEZO2
|
Health Risk |
Likely pathogenic |
— |
| RS2144694416 |
PIEZO2
|
Health Risk |
Likely pathogenic |
— |
| RS2144694433 |
PIEZO2
|
Health Risk |
Pathogenic |
Arthrogryposis, distal |
| RS2144694677 |
BRIP1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2144695518 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144695707 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2144695925 |
SLC12A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144696024 |
BRIP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144697372 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144697778 |
STAT3
|
Health Risk |
Likely pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS2144699040 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144699293 |
ADGRL1
|
Health Risk |
Pathogenic |
Attention deficit hyperactivity disorder, Global developmental delay |
| RS2144700629 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144701260 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2144701307 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144701568 |
BRIP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144701807 |
BRIP1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2144710452 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2144710743 |
ABCA7
|
Health Risk |
Likely pathogenic |
— |
| RS2144711481 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2144711571 |
SLC12A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Renal tubulopathies |
| RS2144711663 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144711765 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2144711826 |
SLC12A3
|
Health Risk |
Likely pathogenic |
— |
| RS2144712491 |
SLC12A3
|
Health Risk |
Likely pathogenic |
— |
| RS2144714194 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144714757 |
LAMA3
|
Health Risk |
Likely pathogenic |
Epidermolysis bullosa, junctional 2B |