| RS2148649846 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
Coffin-Lowry syndrome, Intellectual disability |
| RS2148649878 |
RPS6KA3
|
Health Risk |
Pathogenic |
— |
| RS2148650304 |
DYRK1A
|
Health Risk |
Likely pathogenic |
— |
| RS2148651660 |
DYRK1A
|
Health Risk |
Conflicting classifications of pathogenicity |
DYRK1A-related intellectual disability syndrome, Inborn genetic diseases |
| RS2148651821 |
GRHL3
|
Health Risk |
Likely pathogenic |
Isolated cleft palate, Isolated cleft palate |
| RS2148653302 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148656473 |
ATRX
|
Health Risk |
Likely pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2148657465 |
ATRX
|
Health Risk |
Likely pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2148658325 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS2148658938 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS2148658967 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148659257 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148659330 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148659417 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148659508 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Inborn genetic diseases |
| RS2148659542 |
MECP2
|
Health Risk |
Likely pathogenic |
Neurodevelopmental delay, Neurodevelopmental delay |
| RS2148659670 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148659692 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2148659968 |
MECP2
|
Health Risk |
Likely pathogenic |
— |
| RS2148660011 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome |
| RS2148660220 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148660481 |
MECP2
|
Health Risk |
Pathogenic |
Neurodevelopmental delay, Neurodevelopmental delay |
| RS2148660746 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148660771 |
MECP2
|
Health Risk |
Pathogenic |
Neurodevelopmental delay, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148660777 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148661261 |
MECP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148661347 |
MECP2
|
Health Risk |
Likely pathogenic |
Neurodevelopmental delay, Rett syndrome |
| RS2148661393 |
MECP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148661474 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS2148661645 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148661665 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148661699 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148661854 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148661856 |
ANKRD17
|
Health Risk |
Pathogenic |
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148661892 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148661952 |
MECP2
|
Health Risk |
Pathogenic |
X-linked intellectual disability-psychosis-macroorchidism syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome |
| RS2148662184 |
DYRK1A
|
Health Risk |
Pathogenic |
— |
| RS2148662354 |
RPS6KA3
|
Health Risk |
Pathogenic |
— |
| RS2148662359 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148662532 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148662758 |
DYRK1A
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS2148663296 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148663473 |
MECP2
|
Health Risk |
Pathogenic |
X-linked intellectual disability-psychosis-macroorchidism syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome |
| RS2148663602 |
MECP2
|
Health Risk |
Pathogenic |
X-linked intellectual disability-psychosis-macroorchidism syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome |
| RS2148663769 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148664069 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148664125 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148665223 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2148666355 |
MECP2
|
Health Risk |
Likely pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148666695 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148666767 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS2148666876 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148666907 |
MECP2
|
Health Risk |
Likely pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148667088 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS2148667313 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome |
| RS2148676442 |
TYMP
|
Health Risk |
Likely pathogenic |
— |
| RS2148676984 |
TYMP
|
Health Risk |
Pathogenic |
— |
| RS2148677827 |
TYMP
|
Health Risk |
Pathogenic |
— |
| RS2148678704 |
TYMP
|
Health Risk |
Pathogenic |
— |
| RS2148678717 |
TYMP
|
Health Risk |
Pathogenic |
— |
| RS2148678936 |
TYMP
|
Health Risk |
Likely pathogenic |
— |
| RS2148680676 |
NBAS
|
Health Risk |
Pathogenic |
— |
| RS2148682758 |
TYMP
|
Health Risk |
Pathogenic |
— |
| RS2148683231 |
TYMP
|
Health Risk |
Pathogenic |
— |
| RS2148683541 |
TYMP
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS2148684587 |
ANKRD17
|
Health Risk |
Likely pathogenic |
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148684659 |
ANKRD17
|
Health Risk |
Likely pathogenic |
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148685545 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148685612 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148685676 |
SPAST
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148685718 |
SPAST
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148685798 |
SPAST
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2148685848 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2148685852 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2148685859 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2148686334 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Intellectual disability |
| RS2148686409 |
RPS6KA3
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 19 |
| RS2148686736 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148688172 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
— |
| RS2148690745 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2148690880 |
BLTP1
|
Health Risk |
Pathogenic |
Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS2148690952 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2148691015 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2148691292 |
DMD
|
Health Risk |
Likely pathogenic |
Abnormality of the musculature, Abnormality of the musculature |
| RS2148691516 |
DMD
|
Health Risk |
Pathogenic |
Becker muscular dystrophy, Becker muscular dystrophy |
| RS2148691615 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2148691727 |
DMD
|
Health Risk |
Pathogenic |
Becker muscular dystrophy, Becker muscular dystrophy |
| RS2148691771 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2148691779 |
DMD
|
Health Risk |
Pathogenic |
DMD-related disorder, Nonpapillary renal cell carcinoma |
| RS2148700748 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2148701796 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 19 |
| RS2148701829 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
Coffin-Lowry syndrome, Thyroid cancer |
| RS2148701869 |
ANKRD17
|
Health Risk |
Likely pathogenic |
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148701884 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148703089 |
EIF2AK2
|
Health Risk |
Likely pathogenic |
Leukoencephalopathy, developmental delay |
| RS2148705154 |
EIF2AK2
|
Health Risk |
Likely pathogenic |
Dystonia 33, Dystonia 33 |
| RS2148707066 |
DEPDC5
|
Health Risk |
Likely pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2148707379 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Inborn genetic diseases |
| RS2148707460 |
RYR2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2148707724 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |