| RS587784421 |
SMC1A
|
Health Risk |
Pathogenic |
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS587784422 |
SMC1A
|
Health Risk |
Pathogenic |
Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy |
| RS587784423 |
SMC1A
|
Health Risk |
Pathogenic |
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS587784425 |
SMC3
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS587784426 |
SMC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cornelia de Lange syndrome 3, Inborn genetic diseases |
| RS587784427 |
SMC3
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS587784429 |
SMC3
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3 |
| RS587784431 |
SPTAN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 5 |
| RS587784437 |
SPTAN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 5 |
| RS587784438 |
SPTAN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 5 |
| RS587784439 |
SPTAN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 5 |
| RS587784440 |
SPTAN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 5 |
| RS587784443 |
SRCAP
|
Health Risk |
Conflicting classifications of pathogenicity |
SRCAP-related disorder, SRCAP-related disorder |
| RS587784444 |
SRCAP
|
Health Risk |
Conflicting classifications of pathogenicity |
Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS587784452 |
STIL
|
Health Risk |
Likely pathogenic |
Microcephaly 7, primary |
| RS587784453 |
STXBP1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS587784454 |
STXBP1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS587784455 |
STXBP1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS587784458 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784459 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784460 |
TCF4
|
Health Risk |
Likely pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784462 |
TCF4
|
Health Risk |
Likely pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784463 |
TCF4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784464 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Autism spectrum disorder |
| RS587784465 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784466 |
TCF4
|
Health Risk |
Likely pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784468 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784469 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784470 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784475 |
TSEN54
|
Health Risk |
Pathogenic |
Olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia |
| RS587784476 |
TSEN54
|
Health Risk |
Pathogenic/Likely pathogenic |
Olivopontocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS587784477 |
TSEN54
|
Health Risk |
Likely pathogenic |
Olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia |
| RS587784478 |
TSEN54
|
Health Risk |
Pathogenic |
Olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia |
| RS587784479 |
TSEN54
|
Health Risk |
Pathogenic |
Olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia |
| RS587784481 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784482 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Abnormality of neuronal migration |
| RS587784483 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS587784484 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784485 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784486 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784488 |
TUBA1A
|
Health Risk |
Pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784489 |
TUBA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784491 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Inborn genetic diseases |
| RS587784492 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784493 |
TUBA1A
|
Health Risk |
Likely pathogenic |
— |
| RS587784494 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784495 |
TUBA1A
|
Health Risk |
Pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784497 |
TUBA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS587784498 |
TUBB2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS587784499 |
TUBB2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS587784500 |
TUBB2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS587784502 |
TUBB2B
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS587784504 |
TUBB3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS587784505 |
TUBB3
|
Health Risk |
Pathogenic/Likely pathogenic |
Complex cortical dysplasia with other brain malformations 1, Fibrosis of extraocular muscles |
| RS587784506 |
TUBB3
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 1, Fibrosis of extraocular muscles |
| RS587784508 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784509 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784512 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784513 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784514 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784515 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784516 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784517 |
UBE3A
|
Health Risk |
Conflicting classifications of pathogenicity |
Angelman syndrome, Angelman syndrome |
| RS587784518 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784519 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784520 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784521 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Inborn genetic diseases |
| RS587784523 |
UBE3A
|
Health Risk |
Conflicting classifications of pathogenicity |
Angelman syndrome, Angelman syndrome |
| RS587784524 |
UBE3A
|
Health Risk |
Conflicting classifications of pathogenicity |
Angelman syndrome, Inborn genetic diseases |
| RS587784526 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784527 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Inborn genetic diseases |
| RS587784528 |
UBE3A
|
Health Risk |
Conflicting classifications of pathogenicity |
Angelman syndrome, Angelman syndrome |
| RS587784529 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784530 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784531 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784532 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784533 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784534 |
UBE3A
|
Health Risk |
Pathogenic/Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587784535 |
UGT1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperbilirubinemia, Hyperbilirubinemia |
| RS587784537 |
UGT1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperbilirubinemia, Hyperbilirubinemia |
| RS587784541 |
WDR62
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 2, primary |
| RS587784542 |
WDR62
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 2, primary |
| RS587784543 |
WDR62
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 2, primary |
| RS587784544 |
WDR62
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 2, primary |
| RS587784546 |
WDR62
|
Health Risk |
Pathogenic |
Microcephaly 2, primary |
| RS587784548 |
WDR62
|
Health Risk |
Likely pathogenic |
Microcephaly 2, primary |
| RS587784549 |
WDR62
|
Health Risk |
Pathogenic |
Microcephaly 2, primary |
| RS587784553 |
WDR62
|
Health Risk |
Pathogenic |
Microcephaly 2, primary |
| RS587784554 |
WDR62
|
Health Risk |
Likely pathogenic |
Microcephaly 2, primary |
| RS587784555 |
WDR62
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS587784556 |
WDR62
|
Health Risk |
Pathogenic |
— |
| RS587784558 |
WDR62
|
Health Risk |
Likely pathogenic |
Microcephaly 2, primary |
| RS587784562 |
WNT5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS587784563 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Inborn genetic diseases |
| RS587784565 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS587784566 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Intellectual disability |
| RS587784568 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS587784569 |
ZEB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS587784570 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Inborn genetic diseases |
| RS587784571 |
ZEB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |