| RS1555934376 |
PDHA1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555934379 |
PDHA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Thyroid cancer |
| RS1555934383 |
PDHA1
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555934843 |
PDHA1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Thyroid cancer |
| RS1555934859 |
PDHA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555935197 |
PDHA1
|
Health Risk |
Pathogenic |
— |
| RS1555935216 |
PDHA1
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555935223 |
PDHA1
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency |
| RS1555935473 |
PDHA1
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555935486 |
PDHA1
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555935690 |
PDHA1
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555936989 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555936999 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937009 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1555937012 |
GJB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1555937015 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1555937019 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1555937020 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS1555937063 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1555937077 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937082 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937084 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1555937122 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937135 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS1555937143 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1555937145 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1555937150 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1555937161 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth Neuropathy X, Peripheral neuropathy |
| RS1555937166 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937168 |
GJB1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Charcot-Marie-Tooth disease |
| RS1555937180 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1555937194 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937197 |
GJB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937218 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937221 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1555937223 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1555937233 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937244 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1555937259 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1555937270 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X |
| RS1555937390 |
SOX10
|
Health Risk |
Pathogenic/Likely pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555937395 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555937398 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 2A, Waardenburg syndrome type 2A |
| RS1555937400 |
SOX10
|
Health Risk |
Pathogenic/Likely pathogenic |
Waardenburg syndrome type 4C, SOX10-related disorder |
| RS1555937463 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555937540 |
SOX10
|
Health Risk |
Likely pathogenic |
— |
| RS1555938395 |
SOX10
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Waardenburg syndrome type 2E |
| RS1555938422 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 2A, Waardenburg syndrome type 2A |
| RS1555938741 |
MORC2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z |
| RS1555938796 |
MORC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Z |
| RS1555939331 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Inborn genetic diseases |
| RS1555939377 |
RPS6KA3
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555939381 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 2E, without neurologic involvement |
| RS1555939403 |
SOX10
|
Health Risk |
Pathogenic |
Rare genetic deafness, Waardenburg syndrome type 4C |
| RS1555939408 |
SOX10
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Waardenburg syndrome type 2E |
| RS1555939415 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 2A, Waardenburg syndrome type 2E |
| RS1555939421 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555939426 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555939439 |
SOX10
|
Health Risk |
Conflicting classifications of pathogenicity |
PCWH syndrome, Waardenburg syndrome type 2E |
| RS1555939456 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
Coffin-Lowry syndrome, Intellectual disability |
| RS1555939459 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555939460 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555939476 |
SOX10
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555939491 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 2E, PCWH syndrome |
| RS1555939523 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 2E |
| RS1555939564 |
SOX10
|
Health Risk |
Pathogenic/Likely pathogenic |
Waardenburg syndrome type 2A, Waardenburg syndrome type 4C |
| RS1555939921 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
— |
| RS1555940533 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS1555941116 |
ARR3
|
Health Risk |
Pathogenic |
Myopia 26, X-linked |
| RS1555941129 |
ARR3
|
Health Risk |
Pathogenic |
Myopia 26, X-linked |
| RS1555941759 |
CNKSR2
|
Health Risk |
Likely pathogenic |
X-linked recessive seizure and neurodevelopmental deficit, X-linked recessive seizure and neurodevelopmental deficit |
| RS1555942692 |
RPS6KA3
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 19 |
| RS1555942720 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS1555943479 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Intellectual disability |
| RS1555943484 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Intellectual disability |
| RS1555943492 |
RPS6KA3
|
Health Risk |
Pathogenic |
Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1555943503 |
RPS6KA3
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Coffin-Lowry syndrome |
| RS1555945011 |
ABCB7
|
Health Risk |
Likely pathogenic |
— |
| RS1555945480 |
PIGA
|
Health Risk |
Conflicting classifications of pathogenicity |
Paroxysmal nocturnal hemoglobinuria 1, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1555945553 |
PIGA
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1555945816 |
ZC4H2
|
Health Risk |
Pathogenic |
Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS1555947847 |
CDKL5
|
Health Risk |
Likely pathogenic |
— |
| RS1555948969 |
HDAC8
|
Health Risk |
Pathogenic/Likely pathogenic |
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS1555949009 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1555949010 |
HDAC8
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS1555949011 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1555949033 |
CDKL5
|
Health Risk |
Likely pathogenic |
— |
| RS1555949041 |
CDKL5
|
Health Risk |
Pathogenic |
Angelman syndrome-like, Developmental and epileptic encephalopathy |
| RS1555949215 |
NONO
|
Health Risk |
Pathogenic |
— |
| RS1555949612 |
KIF4A
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 100 |
| RS1555949752 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS1555949763 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1555950011 |
NONO
|
Health Risk |
Pathogenic |
Medulloblastoma, Syndromic X-linked intellectual disability 34 |
| RS1555950066 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1555950083 |
CDKL5
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1555950455 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS1555950465 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1555950468 |
CDKL5
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 2 |
| RS1555950470 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS1555950486 |
CDKL5
|
Health Risk |
Pathogenic |
Angelman syndrome-like, Developmental and epileptic encephalopathy |