| RS2147976542 |
EFNB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS2147976566 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Nonpapillary renal cell carcinoma |
| RS2147976769 |
EFNB1
|
Health Risk |
Likely pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS2147976924 |
EFNB1
|
Health Risk |
Likely pathogenic |
— |
| RS2147978539 |
AP1B1
|
Health Risk |
Pathogenic |
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS2147978696 |
KCNT2
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 57 |
| RS2147979912 |
COL4A5
|
Health Risk |
Likely pathogenic |
— |
| RS2147980049 |
COL4A5
|
Health Risk |
Likely pathogenic |
— |
| RS2147980108 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2147980410 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2147980448 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2147980527 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2147982015 |
COL4A5
|
Health Risk |
Likely pathogenic |
— |
| RS2147982134 |
COL4A5
|
Health Risk |
Likely pathogenic |
— |
| RS2147982351 |
COL4A5
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2147988068 |
ZMYM3
|
Health Risk |
Likely pathogenic |
Global developmental delay, Abnormal facial shape |
| RS2147989449 |
COL4A5
|
Health Risk |
Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2147991184 |
COL4A5
|
Health Risk |
Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2147991216 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2147991282 |
PHKA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease IXa1, Inborn genetic diseases |
| RS2147991408 |
COL4A5
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2147991468 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2147991488 |
COL4A5
|
Health Risk |
Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2147991545 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2147991584 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2147991725 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2147991737 |
COL4A5
|
Health Risk |
Pathogenic/Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2147992303 |
SLC5A6
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodegeneration, infantile-onset |
| RS2147994449 |
XDH
|
Health Risk |
Pathogenic |
Xanthinuria type II, Xanthinuria type II |
| RS2147995205 |
AP1B1
|
Health Risk |
Pathogenic |
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS2147996200 |
POU3F4
|
Health Risk |
Pathogenic |
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS2147996313 |
POU3F4
|
Health Risk |
Pathogenic |
— |
| RS2147996471 |
POU3F4
|
Health Risk |
Pathogenic |
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS2147996672 |
POU3F4
|
Health Risk |
Pathogenic |
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS2147997359 |
KDM6A
|
Health Risk |
Likely pathogenic |
KDM6A-related disorder, KDM6A-related disorder |
| RS2147997903 |
KDM6A
|
Health Risk |
Pathogenic |
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2147998416 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2147998586 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2147998652 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2147998807 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, Nonpapillary renal cell carcinoma |
| RS2148001657 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2148001666 |
COL4A5
|
Health Risk |
Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2148001764 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2148002538 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2148003624 |
COL4A5
|
Health Risk |
Pathogenic/Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2148003651 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2148003686 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2148003690 |
DRC1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2148003713 |
COL4A5
|
Health Risk |
Pathogenic |
— |
| RS2148003771 |
COL4A5
|
Health Risk |
Pathogenic/Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS2148016438 |
TMEM222
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities |
| RS2148016775 |
THOC2
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS2148017124 |
IRS4
|
Health Risk |
Likely pathogenic |
— |
| RS2148019133 |
TMEM222
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities |
| RS2148019138 |
TMEM222
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities |
| RS2148019913 |
ATRX
|
Health Risk |
Pathogenic/Likely pathogenic |
Abnormality of the nervous system, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2148020083 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Adrenal cortex carcinoma |
| RS2148020419 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148021052 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Auditory neuropathy |
| RS2148022135 |
AP1B1
|
Health Risk |
Likely pathogenic |
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS2148023717 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148023735 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148023761 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148024902 |
OTOF
|
Health Risk |
Pathogenic/Likely pathogenic |
Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
| RS2148026336 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148027312 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS2148027425 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2148027688 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2148027711 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2148028248 |
OTOF
|
Health Risk |
Likely pathogenic |
Hearing loss, autosomal recessive |
| RS2148030624 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS2148033408 |
NONO
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34 |
| RS2148033495 |
NONO
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34 |
| RS2148033533 |
NONO
|
Health Risk |
Likely pathogenic |
Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34 |
| RS2148033540 |
NONO
|
Health Risk |
Likely pathogenic |
Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34 |
| RS2148038538 |
NONO
|
Health Risk |
Pathogenic |
Neurodevelopmental delay, Neurodevelopmental delay |
| RS2148039062 |
HDAC8
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 5, Thyroid cancer |
| RS2148039110 |
KDM6A
|
Health Risk |
Conflicting classifications of pathogenicity |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2148039184 |
HDAC8
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2148039797 |
NONO
|
Health Risk |
Pathogenic |
See cases, See cases |
| RS2148040741 |
NONO
|
Health Risk |
Likely pathogenic |
Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34 |
| RS2148045934 |
HDAC8
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2148046428 |
OTOF
|
Health Risk |
Pathogenic |
Bilateral sensorineural hearing impairment, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148046960 |
KIDINS220
|
Health Risk |
Pathogenic |
Ventriculomegaly and arthrogryposis, Ventriculomegaly and arthrogryposis |
| RS2148047301 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148047495 |
KDM6A
|
Health Risk |
Likely pathogenic |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2148047884 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148048394 |
OTOF
|
Health Risk |
Likely pathogenic |
— |
| RS2148050495 |
OTOF
|
Health Risk |
Likely pathogenic |
Auditory neuropathy, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148050812 |
KDM6A
|
Health Risk |
Pathogenic |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2148051187 |
CAD
|
Health Risk |
Pathogenic |
— |
| RS2148051340 |
OTOF
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2148051765 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148051770 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Auditory neuropathy |
| RS2148051981 |
COQ8A
|
Health Risk |
Pathogenic |
— |
| RS2148055230 |
OTOF
|
Health Risk |
Pathogenic |
Ear malformation, Ear malformation |
| RS2148055234 |
NBAS
|
Health Risk |
Pathogenic |
— |
| RS2148056188 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148056311 |
OTOF
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2148056848 |
OTOF
|
Health Risk |
Likely pathogenic |
— |