| RS2520994141 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520994737 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520995137 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520995383 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520995503 |
L1CAM
|
Health Risk |
Likely pathogenic |
L1 syndrome, Nonpapillary renal cell carcinoma |
| RS2520995524 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520995882 |
PCDH19
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520996511 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520996566 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520997876 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520997930 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520998607 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520999081 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2520999577 |
L1CAM
|
Health Risk |
Pathogenic |
X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome |
| RS2520999960 |
PCDH19
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 9 |
| RS2521000590 |
L1CAM
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2521001058 |
L1CAM
|
Health Risk |
Likely pathogenic |
X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome |
| RS2521001069 |
L1CAM
|
Health Risk |
Conflicting classifications of pathogenicity |
Spastic paraplegia, Spastic paraplegia |
| RS2521002176 |
L1CAM
|
Health Risk |
Pathogenic/Likely pathogenic |
L1CAM-related disorder, Spastic paraplegia |
| RS2521003842 |
L1CAM
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2521005091 |
L1CAM
|
Health Risk |
Pathogenic |
— |
| RS2521010322 |
SMC1A
|
Health Risk |
Pathogenic |
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2521010433 |
SMC1A
|
Health Risk |
Likely pathogenic |
— |
| RS2521011529 |
L1CAM
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2521012110 |
L1CAM
|
Health Risk |
Likely pathogenic |
— |
| RS2521016238 |
GPC3
|
Health Risk |
Pathogenic |
Wilms tumor 1, Wilms tumor 1 |
| RS2521016418 |
L1CAM
|
Health Risk |
Pathogenic |
L1CAM-related disorder, L1CAM-related disorder |
| RS2521016626 |
GPC3
|
Health Risk |
Pathogenic |
Wilms tumor 1, Wilms tumor 1 |
| RS2521020218 |
L1CAM
|
Health Risk |
Likely pathogenic |
L1CAM-related disorder, L1CAM-related disorder |
| RS2521024037 |
L1CAM
|
Health Risk |
Pathogenic |
X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome |
| RS2521024495 |
L1CAM
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2521024663 |
L1CAM
|
Health Risk |
Pathogenic |
Spastic paraplegia, Nonpapillary renal cell carcinoma |
| RS2521025258 |
L1CAM
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2521036025 |
L1CAM
|
Health Risk |
Likely pathogenic |
Muscular dystrophy, limb-girdle |
| RS2521038376 |
L1CAM
|
Health Risk |
Conflicting classifications of pathogenicity |
Spastic paraplegia, Spastic paraplegia |
| RS2521039402 |
L1CAM
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2521043571 |
L1CAM
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2521046077 |
CUL4B
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521055640 |
THOC2
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2521056003 |
THOC2
|
Health Risk |
Likely pathogenic |
— |
| RS2521057345 |
L1CAM
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2521063915 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2521064591 |
CHM
|
Health Risk |
Pathogenic |
— |
| RS2521065589 |
CHM
|
Health Risk |
Pathogenic |
— |
| RS2521066233 |
CUL4B
|
Health Risk |
Pathogenic |
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521066867 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS2521066981 |
CUL4B
|
Health Risk |
Pathogenic |
— |
| RS2521067796 |
DMD
|
Health Risk |
Likely pathogenic |
Becker muscular dystrophy, Becker muscular dystrophy |
| RS2521078665 |
ACSL4
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 63 |
| RS2521092158 |
HSD17B10
|
Health Risk |
Likely pathogenic |
HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS2521092831 |
HSD17B10
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2521096456 |
HSD17B10
|
Health Risk |
Likely pathogenic |
HSD17B10-related disorder, HSD17B10-related disorder |
| RS2521099221 |
DMD
|
Health Risk |
Likely pathogenic |
— |
| RS2521100200 |
CUL4B
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521100430 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2521104156 |
DMD
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Duchenne muscular dystrophy |
| RS2521105410 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2521105726 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2521106352 |
CUL4B
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521123015 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2521124270 |
CUL4B
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521126536 |
HDAC8
|
Health Risk |
Likely pathogenic |
— |
| RS2521133928 |
RBM10
|
Health Risk |
Pathogenic |
TARP syndrome, TARP syndrome |
| RS2521136612 |
CUL4B
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521147113 |
ZIC3
|
Health Risk |
Pathogenic |
Heterotaxy, visceral |
| RS2521148248 |
BRWD3
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 93 |
| RS2521148992 |
ZIC3
|
Health Risk |
Pathogenic |
Heterotaxy, visceral |
| RS2521149558 |
ZIC3
|
Health Risk |
Pathogenic |
Heterotaxy, visceral |
| RS2521149676 |
ZIC3
|
Health Risk |
Likely pathogenic |
ZIC3-related disorder, ZIC3-related disorder |
| RS2521150121 |
ZIC3
|
Health Risk |
Pathogenic |
Heterotaxy, visceral |
| RS2521150530 |
AVPR2
|
Health Risk |
Pathogenic |
AVPR2-related disorder, AVPR2-related disorder |
| RS2521150898 |
ZIC3
|
Health Risk |
Pathogenic |
Heterotaxy, visceral |
| RS2521151410 |
AVPR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS2521151990 |
AVPR2
|
Health Risk |
Likely pathogenic |
Nephrogenic syndrome of inappropriate antidiuresis, Nephrogenic syndrome of inappropriate antidiuresis |
| RS2521152444 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521152705 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521152920 |
AVPR2
|
Health Risk |
Pathogenic |
Nephrogenic syndrome of inappropriate antidiuresis, Diabetes insipidus |
| RS2521153216 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521153564 |
AVPR2
|
Health Risk |
Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS2521153751 |
AVPR2
|
Health Risk |
Pathogenic |
Diabetes insipidus, nephrogenic |
| RS2521153830 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521154725 |
ZIC3
|
Health Risk |
Likely pathogenic |
Heterotaxy, visceral |
| RS2521154915 |
ZIC3
|
Health Risk |
Likely pathogenic |
— |
| RS2521155029 |
ZIC3
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2521155993 |
AVPR2
|
Health Risk |
Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS2521156033 |
AVPR2
|
Health Risk |
Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS2521156139 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521156554 |
BRWD3
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 93 |
| RS2521156738 |
AVPR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Diabetes insipidus, nephrogenic |
| RS2521156756 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521156768 |
AVPR2
|
Health Risk |
Likely pathogenic |
AVPR2-related disorder, AVPR2-related disorder |
| RS2521158880 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521159932 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521160162 |
GPC3
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2521160397 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521161385 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521161601 |
AVPR2
|
Health Risk |
Pathogenic |
— |
| RS2521161799 |
AVPR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus |
| RS2521161921 |
AVPR2
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2521162046 |
AVPR2
|
Health Risk |
Likely pathogenic |
Diabetes insipidus, nephrogenic |