| RS281875189 |
SMARCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Nicolaides-Baraitser syndrome, Intellectual disability |
| RS281875190 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875192 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875196 |
SMARCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875197 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, SMARCA2-related disorder |
| RS281875198 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875199 |
SMARCA2
|
Health Risk |
Pathogenic |
Blepharophimosis-impaired intellectual development syndrome, SMARCA2-related BAFopathy |
| RS281875202 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875203 |
SMARCA2
|
Health Risk |
Pathogenic |
— |
| RS281875205 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875206 |
SMARCA2
|
Health Risk |
Likely pathogenic |
— |
| RS281875207 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875208 |
SLC46A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital defect of folate absorption, Congenital defect of folate absorption |
| RS281875209 |
SLC46A1
|
Health Risk |
Pathogenic |
Congenital defect of folate absorption, Congenital defect of folate absorption |
| RS281875211 |
SLC46A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital defect of folate absorption, Congenital defect of folate absorption |
| RS281875212 |
CARD14
|
Health Risk |
Pathogenic |
Psoriasis 2, Psoriasis 2 |
| RS281875213 |
CARD14
|
Health Risk |
Pathogenic |
Psoriasis 2, Psoriasis 2 |
| RS281875214 |
CARD14
|
Health Risk |
Pathogenic |
PSORIASIS 2, PUSTULAR |
| RS281875215 |
CARD14
|
Health Risk |
Pathogenic |
Psoriasis 2, Papulosquamous eruptions |
| RS281875221 |
ERCC8
|
Health Risk |
Pathogenic |
UV-sensitive syndrome 2, UV-sensitive syndrome 2 |
| RS281875222 |
ERCC8
|
Health Risk |
Likely pathogenic |
Cockayne syndrome type 1, Cockayne syndrome |
| RS281875225 |
ERCC8
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Cockayne syndrome type 1 |
| RS281875226 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 16 |
| RS281875227 |
SMARCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 16 |
| RS281875228 |
SMARCA4
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 16 |
| RS281875229 |
SMARCA4
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 16 |
| RS281875230 |
SMARCA4
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 16 |
| RS281875231 |
CYP26B1
|
Health Risk |
Likely pathogenic |
Lethal occipital encephalocele-skeletal dysplasia syndrome, Lethal occipital encephalocele-skeletal dysplasia syndrome |
| RS281875232 |
CYP26B1
|
Health Risk |
Pathogenic |
Lethal occipital encephalocele-skeletal dysplasia syndrome, Lethal occipital encephalocele-skeletal dysplasia syndrome |
| RS281875234 |
GPR179
|
Health Risk |
Pathogenic |
Congenital stationary night blindness 1E, Congenital stationary night blindness 1E |
| RS281875236 |
GPR179
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital stationary night blindness 1E, Congenital stationary night blindness 1E |
| RS281875237 |
SKIC2
|
Health Risk |
Pathogenic |
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS281875238 |
SMARCA2
|
Health Risk |
Likely pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875239 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875240 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875243 |
F11
|
Health Risk |
Pathogenic |
Plasma factor XI deficiency, Plasma factor XI deficiency |
| RS281875244 |
F11
|
Health Risk |
Likely pathogenic |
— |
| RS281875245 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875250 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875251 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875252 |
F11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875255 |
F11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875256 |
F11
|
Health Risk |
Pathogenic |
— |
| RS281875257 |
F11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875265 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875266 |
F11
|
Health Risk |
Pathogenic/Likely pathogenic |
Coagulation factor deficiency syndrome, Hereditary factor XI deficiency disease |
| RS281875269 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875270 |
F11
|
Health Risk |
Pathogenic |
— |
| RS281875272 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875275 |
F11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875276 |
F11
|
Health Risk |
Conflicting classifications of pathogenicity |
F11-related disorder, Hereditary factor XI deficiency disease |
| RS281875279 |
F11
|
Health Risk |
Pathogenic |
— |
| RS281875281 |
FREM1
|
Health Risk |
Likely pathogenic |
Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS281875282 |
FREM1
|
Health Risk |
Pathogenic |
Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS281875283 |
SLC33A1
|
Health Risk |
Pathogenic |
Huppke-Brendel syndrome, Huppke-Brendel syndrome |
| RS281875284 |
VAPB
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 8, Amyotrophic lateral sclerosis type 8 |
| RS281875287 |
ADAMTS13
|
Health Risk |
Likely pathogenic |
Upshaw-Schulman syndrome, ADAMTS13-related disorder |
| RS281875288 |
ADAMTS13
|
Health Risk |
Pathogenic/Likely pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875291 |
ADAMTS13
|
Health Risk |
Likely pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875296 |
ADAMTS13
|
Health Risk |
Pathogenic |
— |
| RS281875299 |
ADAMTS13
|
Health Risk |
Pathogenic |
Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura |
| RS281875300 |
ADAMTS13
|
Health Risk |
Likely pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875302 |
ADAMTS13
|
Health Risk |
Conflicting classifications of pathogenicity |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875304 |
ADAMTS13
|
Health Risk |
Likely pathogenic |
— |
| RS281875307 |
ADAMTS13
|
Health Risk |
Likely pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875309 |
MLC1
|
Health Risk |
Pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS281875310 |
MLC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS281875311 |
MLC1
|
Health Risk |
Likely pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS281875313 |
MLC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS281875315 |
MLC1
|
Health Risk |
Likely pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS281875316 |
MLC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS281875317 |
MLC1
|
Health Risk |
Likely pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS281875318 |
PYCR1
|
Health Risk |
Conflicting classifications of pathogenicity |
PYCR1-related de Barsy syndrome, Inborn genetic diseases |
| RS281875320 |
SMAD4
|
Health Risk |
Pathogenic |
Myhre syndrome, Juvenile polyposis syndrome |
| RS281875321 |
SMAD4
|
Health Risk |
Pathogenic |
Myhre syndrome, Juvenile polyposis syndrome |
| RS281875322 |
SMAD4
|
Health Risk |
Pathogenic |
Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli |
| RS281875323 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Pulmonary hypertension, primary |
| RS281875324 |
SMAD4
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS281875325 |
ACTG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Baraitser-winter syndrome 2, See cases |
| RS281875326 |
ACTG1
|
Health Risk |
Pathogenic |
Baraitser-winter syndrome 2, Congenital anomaly of kidney and urinary tract |
| RS281875327 |
ACTG1
|
Health Risk |
Likely pathogenic |
Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS281875328 |
ACTG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Baraitser-winter syndrome 2, Lissencephaly |
| RS281875329 |
ACTG1
|
Health Risk |
Pathogenic |
Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS281875331 |
ACTB
|
Health Risk |
Pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS281875332 |
ACTB
|
Health Risk |
Conflicting classifications of pathogenicity |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS281875333 |
ACTB
|
Health Risk |
Pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS281875334 |
ACTB
|
Health Risk |
Likely pathogenic |
Baraitser-Winter syndrome 1, Inborn genetic diseases |
| RS281875337 |
ADAMTS13
|
Health Risk |
Conflicting classifications of pathogenicity |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875338 |
ADAMTS13
|
Health Risk |
Pathogenic/Likely pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875340 |
ADAMTS13
|
Health Risk |
Pathogenic/Likely pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875357 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS281875358 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS281875360 |
ZMPSTE24
|
Health Risk |
Pathogenic |
Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS281875361 |
ZMPSTE24
|
Health Risk |
Pathogenic |
Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS281875367 |
ZMPSTE24
|
Health Risk |
Pathogenic |
Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome |
| RS281875369 |
ZMPSTE24
|
Health Risk |
Pathogenic |
Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS281875370 |
ZMPSTE24
|
Health Risk |
Pathogenic/Likely pathogenic |
Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome |
| RS281875371 |
ZMPSTE24
|
Health Risk |
Pathogenic |
— |
| RS281875372 |
ZMPSTE24
|
Health Risk |
Pathogenic |
— |
| RS281875373 |
ZMPSTE24
|
Health Risk |
Pathogenic |
— |