| RS587783241 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 5, primary |
| RS587783242 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 5, primary |
| RS587783245 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783246 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 5, primary |
| RS587783247 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783248 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783258 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783259 |
ASPM
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 5, primary |
| RS587783260 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 5, primary |
| RS587783261 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 5, primary |
| RS587783262 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 5, primary |
| RS587783263 |
ASPM
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 5, primary |
| RS587783265 |
ASPM
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 5, primary |
| RS587783268 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783269 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783272 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783275 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783276 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 5, primary |
| RS587783277 |
ASPM
|
Health Risk |
Likely pathogenic |
Microcephaly 5, primary |
| RS587783278 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783280 |
ASPM
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 5, primary |
| RS587783281 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 5, primary |
| RS587783282 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783283 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783285 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783287 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783288 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783289 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783292 |
ASPM
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 5, primary |
| RS587783295 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783299 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Inborn genetic diseases |
| RS587783301 |
ATP7B
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilson disease, Wilson disease |
| RS587783306 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS587783307 |
ATP7B
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilson disease, Wilson disease |
| RS587783309 |
ATP7B
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilson disease, Wilson disease |
| RS587783314 |
ATP7B
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilson disease, Inborn genetic diseases |
| RS587783315 |
ATP7B
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilson disease, Wilson disease |
| RS587783317 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS587783318 |
ATP7B
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilson disease, ATP7B-related disorder |
| RS587783328 |
ATR
|
Health Risk |
Conflicting classifications of pathogenicity |
Seckel syndrome 1, Inborn genetic diseases |
| RS587783340 |
ATR
|
Health Risk |
Conflicting classifications of pathogenicity |
Seckel syndrome 1, Inborn genetic diseases |
| RS587783343 |
BIN1
|
Health Risk |
Pathogenic |
Myopathy, centronuclear |
| RS587783357 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783358 |
CASK
|
Health Risk |
Conflicting classifications of pathogenicity |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783360 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783361 |
CASK
|
Health Risk |
Pathogenic/Likely pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783362 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783364 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783366 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783367 |
CASK
|
Health Risk |
Conflicting classifications of pathogenicity |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783368 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783369 |
CASK
|
Health Risk |
Conflicting classifications of pathogenicity |
Syndromic X-linked intellectual disability Najm type, FG syndrome 4 |
| RS587783370 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Intellectual disability |
| RS587783371 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS587783377 |
BRIP1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS587783379 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, autosomal dominant |
| RS587783383 |
CDK5RAP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 3, primary |
| RS587783387 |
CDK5RAP2
|
Health Risk |
Pathogenic |
Microcephaly 3, primary |
| RS587783390 |
CDK5RAP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 3, primary |
| RS587783391 |
CDK5RAP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 3, primary |
| RS587783392 |
CDK5RAP2
|
Health Risk |
Pathogenic |
Microcephaly 3, primary |
| RS587783393 |
CDK5RAP2
|
Health Risk |
Pathogenic |
Microcephaly 3, primary |
| RS587783396 |
CDK5RAP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 3, primary |
| RS587783398 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS587783399 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS587783401 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS587783405 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS587783406 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS587783410 |
CPAP
|
Health Risk |
Pathogenic |
Microcephaly 6, primary |
| RS587783414 |
CEP152
|
Health Risk |
Pathogenic |
Microcephaly 9, primary |
| RS587783415 |
CEP152
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 9, primary |
| RS587783417 |
CEP152
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 9, primary |
| RS587783418 |
CEP152
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 9, primary |
| RS587783421 |
CEP152
|
Health Risk |
Pathogenic |
Microcephaly 9, primary |
| RS587783423 |
CEP152
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 9, primary |
| RS587783424 |
CEP152
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 9, primary |
| RS587783428 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783429 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS587783430 |
CHD7
|
Health Risk |
Conflicting classifications of pathogenicity |
CHARGE syndrome, CHARGE syndrome |
| RS587783431 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783432 |
CHD7
|
Health Risk |
Likely pathogenic |
CHARGE syndrome, Inborn genetic diseases |
| RS587783433 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783434 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783435 |
CHD7
|
Health Risk |
Conflicting classifications of pathogenicity |
CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS587783436 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783439 |
CHD7
|
Health Risk |
Conflicting classifications of pathogenicity |
CHARGE syndrome, Inborn genetic diseases |
| RS587783440 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783441 |
CHD7
|
Health Risk |
Likely pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783442 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, Inborn genetic diseases |
| RS587783443 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783445 |
CHD7
|
Health Risk |
Likely pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783446 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783447 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783448 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783449 |
CHD7
|
Health Risk |
Conflicting classifications of pathogenicity |
CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS587783450 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS587783451 |
CHD7
|
Health Risk |
Pathogenic/Likely pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783454 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHD7-related disorder |
| RS587783455 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783456 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |