| RS1574727988 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574728278 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1574729059 |
NHEJ1
|
Health Risk |
Likely pathogenic |
Isolated anophthalmia-microphthalmia syndrome, Microphthalmia/coloboma 13 |
| RS1574731232 |
SCN2A
|
Health Risk |
Pathogenic |
Seizures, benign familial infantile |
| RS1574731380 |
SCN2A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS1574737047 |
BARD1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Breast carcinoma |
| RS1574739005 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1574739114 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574739207 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1574739562 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1574741105 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1574742341 |
TWIST2
|
Health Risk |
Pathogenic |
Focal facial dermal dysplasia type III, Focal facial dermal dysplasia type III |
| RS1574742486 |
ARMC9
|
Health Risk |
Likely pathogenic |
— |
| RS1574745989 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS1574746733 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS1574746759 |
SCN2A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS1574746935 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS1574748038 |
ALS2
|
Health Risk |
Likely pathogenic |
Juvenile primary lateral sclerosis, Amyotrophic lateral sclerosis type 2 |
| RS1574751309 |
SCN2A
|
Health Risk |
Pathogenic |
Seizures, benign familial infantile |
| RS1574752700 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS1574753929 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574754680 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS1574756047 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574756672 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574767962 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1574771535 |
PAX3
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1574771625 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1574772091 |
PAX3
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1574772311 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1574775376 |
PAX3
|
Health Risk |
Pathogenic |
— |
| RS1574782406 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1574782666 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574785867 |
WIPF1
|
Health Risk |
Pathogenic |
Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2 |
| RS1574786170 |
ALS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1574786225 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574786641 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1574787779 |
ALS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyotrophic lateral sclerosis type 2, juvenile |
| RS1574788120 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574796091 |
MRPL44
|
Health Risk |
Pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1574803132 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574803208 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574813350 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Benign familial hematuria |
| RS1574813382 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574815812 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1574816201 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1574816645 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1574817395 |
TTN
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1574818696 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574818832 |
BARD1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1574818859 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Familial cancer of breast |
| RS1574819607 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1574820102 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1574820458 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1574820590 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1574821103 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1574821129 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574821575 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1574823172 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome |
| RS1574823188 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1574839460 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574839902 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1574840094 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574842143 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hematuria, benign familial |
| RS1574843584 |
SCN9A
|
Health Risk |
Likely pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS1574844397 |
SCN9A
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS1574847294 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1574847428 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1574855486 |
UNC80
|
Health Risk |
Pathogenic |
Hypotonia, infantile |
| RS1574856736 |
SCN9A
|
Health Risk |
Pathogenic |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive |
| RS1574859556 |
SCN9A
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS1574864832 |
DIS3L2
|
Health Risk |
Pathogenic |
Perlman syndrome, Perlman syndrome |
| RS1574869326 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1574873149 |
SCN9A
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS1574884336 |
TUBA4A
|
Health Risk |
Likely pathogenic |
— |
| RS1574886182 |
MFF
|
Health Risk |
Likely pathogenic |
— |
| RS1574887674 |
INPP4A
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS1574891108 |
SLC6A1
|
Health Risk |
Likely pathogenic |
Seizure, Global developmental delay |
| RS1574891285 |
SLC6A1
|
Health Risk |
Likely pathogenic |
— |
| RS1574892457 |
SLC6A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Epilepsy with myoclonic atonic seizures |
| RS1574893965 |
SLC6A1
|
Health Risk |
Pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1574897036 |
SLC6A1
|
Health Risk |
Pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1574901337 |
SLC6A1
|
Health Risk |
Pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1574903287 |
SCN9A
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS1574906521 |
SCN9A
|
Health Risk |
Likely pathogenic |
— |
| RS1574906609 |
SLC6A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Epilepsy with myoclonic atonic seizures, Intellectual disability |
| RS1574906665 |
SLC6A1
|
Health Risk |
Likely pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1574907198 |
SLC6A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, Epilepsy with myoclonic atonic seizures |
| RS1574913614 |
SLC6A1
|
Health Risk |
Pathogenic |
SLC6A1-related disorder, Epilepsy with myoclonic atonic seizures |
| RS1574917501 |
SLC6A1
|
Health Risk |
Pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1574924801 |
SLC6A1
|
Health Risk |
Pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1574929097 |
SLC6A1
|
Health Risk |
Pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1574929972 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1574942567 |
SAG
|
Health Risk |
Pathogenic |
Oguchi disease, Oguchi disease |
| RS1574942920 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1574943406 |
HOXD13
|
Health Risk |
Pathogenic |
Brachydactyly type E1, Brachydactyly type D |
| RS1574949440 |
NRXN1
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS1574950526 |
XPC
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group C |
| RS1574954584 |
XPC
|
Health Risk |
Pathogenic/Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1574955196 |
ABCA12
|
Health Risk |
Likely pathogenic |
— |
| RS1574963068 |
XPC
|
Health Risk |
Pathogenic |
— |