| RS2519902268 |
RPGR
|
Health Risk |
Pathogenic |
X-linked cone-rod dystrophy, RPGR-related retinopathy |
| RS2519902274 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519902491 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519902575 |
RPGR
|
Health Risk |
Pathogenic/Likely pathogenic |
X-linked cone-rod dystrophy, Primary ciliary dyskinesia |
| RS2519903469 |
ARHGEF9
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 8 |
| RS2519905021 |
ARHGEF9
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 8 |
| RS2519907547 |
OPHN1
|
Health Risk |
Pathogenic |
— |
| RS2519909164 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519909173 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519909186 |
RPGR
|
Health Risk |
Likely pathogenic |
— |
| RS2519909386 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2519909444 |
RPGR
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 3, Thyroid cancer |
| RS2519909495 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519909633 |
RPGR
|
Health Risk |
Likely pathogenic |
— |
| RS2519909751 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2519910438 |
RPS6KA3
|
Health Risk |
Likely pathogenic |
— |
| RS2519910699 |
DMD
|
Health Risk |
Likely pathogenic |
Becker muscular dystrophy, Becker muscular dystrophy |
| RS2519910818 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2519910893 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519910923 |
BCOR
|
Health Risk |
Pathogenic |
Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519910949 |
DMD
|
Health Risk |
Likely pathogenic |
Becker muscular dystrophy, Becker muscular dystrophy |
| RS2519911549 |
NEXMIF
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS2519911698 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS2519911944 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Retinal dystrophy |
| RS2519912072 |
NEXMIF
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS2519912098 |
RPGR
|
Health Risk |
Likely pathogenic |
— |
| RS2519912109 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519912308 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519912343 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519912364 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519912505 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519912523 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519912593 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519912695 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519912719 |
NEXMIF
|
Health Risk |
Pathogenic |
NEXMIF-related disorder, NEXMIF-related disorder |
| RS2519912793 |
RPGR
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519912815 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519912843 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519912918 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519913230 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519913307 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519913395 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519913512 |
NEXMIF
|
Health Risk |
Pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS2519913683 |
RP2
|
Health Risk |
Likely pathogenic |
— |
| RS2519913696 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519913721 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519913791 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519913802 |
NEXMIF
|
Health Risk |
Pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS2519913851 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519913940 |
RP2
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS2519914016 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519914037 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519914044 |
RP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS2519914078 |
RP2
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS2519914113 |
RP2
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2519914116 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519914122 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519914154 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519914229 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519914279 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519914292 |
AP1S2
|
Health Risk |
Pathogenic |
Pettigrew syndrome, Pettigrew syndrome |
| RS2519914307 |
RP2
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2519914322 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519914336 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519914345 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519914351 |
AP1S2
|
Health Risk |
Pathogenic |
Pettigrew syndrome, Pettigrew syndrome |
| RS2519914408 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519914451 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519914649 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519914712 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519914804 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519914819 |
RP2
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2519914870 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519914975 |
NEXMIF
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2519915040 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519915114 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519915185 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519915343 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519915380 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519915395 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519915600 |
NEXMIF
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS2519915609 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519915767 |
AP1S2
|
Health Risk |
Pathogenic |
Pettigrew syndrome, Pettigrew syndrome |
| RS2519915802 |
NEXMIF
|
Health Risk |
Pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS2519915982 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916040 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916095 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916149 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916160 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916274 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916313 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916408 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916427 |
NEXMIF
|
Health Risk |
Likely pathogenic |
NEXMIF-related disorder, NEXMIF-related disorder |
| RS2519916570 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916795 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS2519916813 |
NEXMIF
|
Health Risk |
Pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS2519918532 |
RP2
|
Health Risk |
Pathogenic |
Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS2519918555 |
RP2
|
Health Risk |
Pathogenic |
— |
| RS2519918569 |
RP2
|
Health Risk |
Pathogenic |
Retinal disorder, Retinal disorder |
| RS2519918577 |
RP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |