| RS2522144511 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522144724 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522145322 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522145796 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522145845 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522145985 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522146020 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522147688 |
SHOX
|
Health Risk |
Likely pathogenic |
— |
| RS2522148028 |
SHOX
|
Health Risk |
Likely pathogenic |
Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis |
| RS2522150245 |
SPOCD1
|
Health Risk |
Likely pathogenic |
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2522152124 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522152542 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522155835 |
SLC6A8
|
Health Risk |
Pathogenic |
— |
| RS2522156030 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522156087 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522156161 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522156561 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522156636 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522156645 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522158159 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522158368 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522158435 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522161767 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522162048 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522162071 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522162098 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522162557 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522162570 |
SLC6A8
|
Health Risk |
Likely pathogenic |
— |
| RS2522162742 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522163590 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, SLC6A8-related disorder |
| RS2522163743 |
SLC6A8
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Creatine transporter deficiency |
| RS2522165130 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522165172 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522165328 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522165394 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522165418 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522165523 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522166311 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522166345 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522166482 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522166498 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522166546 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522166584 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522166637 |
SLC6A8
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2522166710 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522167336 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522167369 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522167459 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522167571 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522167692 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522167771 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522167787 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522168189 |
DOCK11
|
Health Risk |
Pathogenic |
DOCK11 deficiency, Autoinflammatory disease |
| RS2522168496 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522168585 |
SLC6A8
|
Health Risk |
Pathogenic |
— |
| RS2522168615 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522168744 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522168753 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522169586 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522169864 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522169971 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522169987 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522170019 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522170128 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS2522176508 |
C1QA
|
Health Risk |
Pathogenic |
— |
| RS2522179484 |
HDAC8
|
Health Risk |
Pathogenic |
— |
| RS2522181340 |
C1QA
|
Health Risk |
Pathogenic |
— |
| RS2522181364 |
GNB1
|
Health Risk |
Pathogenic |
— |
| RS2522181650 |
DOCK11
|
Health Risk |
Pathogenic |
DOCK11 deficiency, DOCK11 deficiency |
| RS2522181867 |
ZDHHC9
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type |
| RS2522182323 |
C1QA
|
Health Risk |
Pathogenic |
— |
| RS2522182895 |
ZDHHC9
|
Health Risk |
Likely pathogenic |
— |
| RS2522186331 |
RERE
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS2522189114 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2522193277 |
IGSF1
|
Health Risk |
Pathogenic |
— |
| RS2522194574 |
BCAP31
|
Health Risk |
Likely pathogenic |
— |
| RS2522201595 |
KDM6A
|
Health Risk |
Likely pathogenic |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2522207283 |
ZDHHC9
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS2522216875 |
IGSF1
|
Health Risk |
Likely pathogenic |
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS2522218770 |
ZDHHC9
|
Health Risk |
Pathogenic/Likely pathogenic |
Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS2522226655 |
BCAP31
|
Health Risk |
Pathogenic |
— |
| RS2522227824 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS2522236271 |
HDAC8
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2522237475 |
HDAC8
|
Health Risk |
Likely pathogenic |
— |
| RS2522243863 |
ZDHHC9
|
Health Risk |
Likely pathogenic |
Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type |
| RS2522246692 |
IGSF1
|
Health Risk |
Likely pathogenic |
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS2522248595 |
NMNAT1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS2522249883 |
BCAP31
|
Health Risk |
Likely pathogenic |
— |
| RS2522253384 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS2522253444 |
HDAC8
|
Health Risk |
Likely pathogenic |
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2522253798 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS2522253962 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS2522254215 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS2522255949 |
CDC42
|
Health Risk |
Likely pathogenic |
CDC42-related disorder, CDC42-related disorder |
| RS2522255954 |
CDC42
|
Health Risk |
Pathogenic |
CDC42-associated inflammatory disease, Familial hemophagocytic lymphohistiocytosis |
| RS2522256171 |
HDAC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2522256235 |
PEX10
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder, complementation group 7 |
| RS2522256413 |
PEX10
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder, complementation group 7 |
| RS2522256455 |
PEX10
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder |
| RS2522256568 |
PEX10
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder, complementation group 7 |