| RS2523261815 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523261999 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262389 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262484 |
G6PD
|
Health Risk |
Pathogenic/Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262545 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262550 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262563 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262593 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262643 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262719 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262731 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262775 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262780 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262831 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262863 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262871 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523262948 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523263007 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523263128 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523263137 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523263185 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523263701 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523263733 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523263765 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523263867 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523264021 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523264030 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523264036 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523264055 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265233 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265236 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265386 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265393 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265461 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265466 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265489 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265494 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265500 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265506 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265511 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523265547 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523266673 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523266681 |
G6PD
|
Health Risk |
Likely pathogenic |
Malaria, susceptibility to |
| RS2523266689 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523266717 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523266771 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523266813 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523266831 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523266858 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523266966 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523267976 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523267993 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523268094 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523268306 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523268370 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523268414 |
G6PD
|
Health Risk |
Pathogenic/Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523268426 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523268489 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523268586 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523268622 |
ATP13A2
|
Health Risk |
Pathogenic |
Autosomal recessive spastic paraplegia type 78, Neurodegeneration with brain iron accumulation |
| RS2523270760 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523270765 |
G6PD
|
Health Risk |
Pathogenic/Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523270915 |
G6PD
|
Health Risk |
Likely pathogenic |
— |
| RS2523270927 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523271102 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523271147 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523271160 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523271286 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523271379 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523271431 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523272742 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523272772 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523272843 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523272874 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523272918 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523273261 |
G6PD
|
Health Risk |
Likely pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523273296 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523277815 |
ATP13A2
|
Health Risk |
Likely pathogenic |
Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome |
| RS2523280337 |
DOCK7
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 23 |
| RS2523282436 |
KDM6A
|
Health Risk |
Pathogenic |
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2523283034 |
KDM6A
|
Health Risk |
Likely pathogenic |
— |
| RS2523301351 |
NEXN
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS2523301617 |
FHOD3
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, familial hypertrophic |
| RS2523301824 |
NEXN
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC |
| RS2523309030 |
G6PD
|
Health Risk |
Pathogenic |
Anemia, nonspherocytic hemolytic |
| RS2523314003 |
DEPDC5
|
Health Risk |
Likely pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2523314330 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS2523315114 |
ATP13A2
|
Health Risk |
Pathogenic |
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS2523317434 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2523330593 |
KDM6A
|
Health Risk |
Pathogenic |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2523335614 |
KDM6A
|
Health Risk |
Pathogenic |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS2523341350 |
STIL
|
Health Risk |
Likely pathogenic |
Microcephaly 7, primary |
| RS2523349291 |
IKBKG
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2523351526 |
MACF1
|
Health Risk |
Likely pathogenic |
Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation |
| RS2523353154 |
KIF1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2523365593 |
IKBKG
|
Health Risk |
Likely pathogenic |
— |
| RS2523366018 |
IKBKG
|
Health Risk |
Likely pathogenic |
Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome |
| RS2523366134 |
IKBKG
|
Health Risk |
Pathogenic |
Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome |
| RS2523366577 |
PAK3
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 30 |
| RS2523369005 |
PAK3
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 30 |