| RS1603411214 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS1603415028 |
EIF1AX
|
Health Risk |
Likely pathogenic |
Multiple myeloma, Multiple myeloma |
| RS1603417191 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603417213 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603417440 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Intellectual disability |
| RS1603419074 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603419076 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603420690 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603422403 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603422409 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Intellectual disability |
| RS1603423268 |
DCX
|
Health Risk |
Likely pathogenic |
Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation |
| RS1603425338 |
RPS6KA3
|
Health Risk |
Conflicting classifications of pathogenicity |
Coffin-Lowry syndrome, Inborn genetic diseases |
| RS1603425345 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Intellectual disability |
| RS1603425362 |
RPS6KA3
|
Health Risk |
Pathogenic |
— |
| RS1603426293 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603426295 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603426296 |
RPS6KA3
|
Health Risk |
Pathogenic |
— |
| RS1603428228 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Thyroid cancer |
| RS1603429348 |
DKC1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, X-linked |
| RS1603429509 |
DKC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, X-linked |
| RS1603430178 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603430181 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603430208 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603430221 |
SBF1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1603430929 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603431479 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603431506 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603431508 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Abnormality of coagulation, Abnormality of coagulation |
| RS1603431511 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603431512 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603431561 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603431562 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603432059 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603432076 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603432783 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603432784 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603432906 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603432908 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603432913 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Thyroid cancer |
| RS1603432970 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603432981 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603432996 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603433713 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603433715 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603433729 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603433733 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603433756 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603433779 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603433803 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603434460 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603434697 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603434698 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603434863 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603435026 |
F8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603435027 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603435217 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603435220 |
F8
|
Health Risk |
Pathogenic |
— |
| RS1603435260 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603435281 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603435286 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603435395 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, F8-related disorder |
| RS1603436123 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603436217 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603436218 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603436426 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603436436 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603436638 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603436639 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603436770 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603437254 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603437272 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603437863 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603441550 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603441629 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603441682 |
SCO2
|
Health Risk |
Likely pathogenic |
Cardioencephalomyopathy, fatal infantile |
| RS1603441843 |
TYMP
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1603441848 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial neurogastrointestinal encephalomyopathy |
| RS1603442039 |
TYMP
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1603442040 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1603444881 |
ARSA
|
Health Risk |
Conflicting classifications of pathogenicity |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS1603444908 |
ARSA
|
Health Risk |
Pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS1603445026 |
ARSA
|
Health Risk |
Pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS1603445277 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603445278 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603445283 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603445311 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1603445332 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603445344 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603445997 |
SHANK3
|
Health Risk |
Likely pathogenic |
Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS1603447057 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603447072 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603447081 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603447111 |
SHANK3
|
Health Risk |
Likely pathogenic |
— |
| RS1603447122 |
SHANK3
|
Health Risk |
Pathogenic |
— |
| RS1603447135 |
SHANK3
|
Health Risk |
Pathogenic |
Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS1603447136 |
SHANK3
|
Health Risk |
Pathogenic |
— |
| RS1603447139 |
SHANK3
|
Health Risk |
Pathogenic |
— |
| RS1603447144 |
SHANK3
|
Health Risk |
Pathogenic/Likely pathogenic |
Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS1603447373 |
SHANK3
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1603447380 |
SHANK3
|
Health Risk |
Pathogenic |
Phelan-McDermid syndrome, Phelan-McDermid syndrome |