| RS2475161271 |
EVC
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475161920 |
EVC
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475163025 |
CC2D2A
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2475163508 |
CC2D2A
|
Health Risk |
Likely pathogenic |
— |
| RS2475164777 |
EVC
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475165491 |
EVC
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475165521 |
OPA1
|
Health Risk |
Pathogenic |
— |
| RS2475165782 |
EVC
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475166040 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475166131 |
OPA1
|
Health Risk |
Pathogenic |
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS2475166808 |
OPA1
|
Health Risk |
Pathogenic |
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS2475167246 |
OPA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS2475173295 |
PROM1
|
Health Risk |
Pathogenic |
— |
| RS2475182776 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475182808 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475183787 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475184249 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475185859 |
WDR19
|
Health Risk |
Pathogenic |
Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 |
| RS2475187976 |
WDR19
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475189674 |
OPA1
|
Health Risk |
Likely pathogenic |
Auditory neuropathy, Auditory neuropathy |
| RS2475189707 |
OPA1
|
Health Risk |
Likely pathogenic |
Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form |
| RS2475190532 |
OPA1
|
Health Risk |
Pathogenic |
Dominant hereditary optic atrophy, Dominant hereditary optic atrophy |
| RS2475190695 |
OPA1
|
Health Risk |
Pathogenic |
— |
| RS2475197732 |
PIGG
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 53 |
| RS2475201744 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475202450 |
WDR19
|
Health Risk |
Likely pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475203506 |
WDR19
|
Health Risk |
Pathogenic/Likely pathogenic |
Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 |
| RS2475204247 |
RBPJ
|
Health Risk |
Likely pathogenic |
Adams-Oliver syndrome 3, Adams-Oliver syndrome 3 |
| RS2475204678 |
OPA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Abortive cerebellar ataxia, Abortive cerebellar ataxia |
| RS2475205892 |
OPA1
|
Health Risk |
Pathogenic |
— |
| RS2475206007 |
OPA1
|
Health Risk |
Likely pathogenic |
Abortive cerebellar ataxia, Abortive cerebellar ataxia |
| RS2475206793 |
OPA1
|
Health Risk |
Pathogenic |
— |
| RS2475207285 |
OPA1
|
Health Risk |
Pathogenic |
— |
| RS2475207726 |
EVC2
|
Health Risk |
Likely pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475208623 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475212208 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475219834 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475219892 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475219909 |
WDR19
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475219928 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475220056 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475220370 |
WDR19
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475221407 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221549 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221590 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221626 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221695 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221776 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221832 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221946 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221951 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475222171 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475222188 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475223506 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475223584 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230035 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230212 |
SGCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230289 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230407 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230551 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230575 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230629 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230634 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475231042 |
PROM1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2475232041 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2475235098 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475235455 |
EVC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475235794 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475236297 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475236316 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475236518 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475236631 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475236642 |
EVC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475236700 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475236718 |
EVC2
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475237395 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475237449 |
SGCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475237480 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475237489 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475244297 |
WDR19
|
Health Risk |
Likely pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475247369 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS2475254533 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475270352 |
WDR19
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475275455 |
PROM1
|
Health Risk |
Pathogenic |
— |
| RS2475275700 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2475275702 |
PROM1
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 12, Cone-rod dystrophy 12 |
| RS2475280421 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2475282541 |
PROM1
|
Health Risk |
Pathogenic |
— |
| RS2475296302 |
GABRA2
|
Health Risk |
Likely pathogenic |
GABRA2-related disorder, GABRA2-related disorder |
| RS2475296327 |
GABRA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 78 |
| RS2475296530 |
GABRA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 78 |
| RS2475308336 |
CEP135
|
Health Risk |
Pathogenic |
— |
| RS2475315582 |
WDR19
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475315591 |
WDR19
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475315841 |
WDR19
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475319276 |
CEP135
|
Health Risk |
Pathogenic |
— |
| RS2475320731 |
WDR19
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 |
| RS2475323315 |
KIT
|
Health Risk |
Pathogenic |
Gastrointestinal stromal tumor, Gastrointestinal stromal tumor |
| RS2475333975 |
CEP135
|
Health Risk |
Likely pathogenic |
Microcephaly 8, primary |
| RS2475347842 |
CEP135
|
Health Risk |
Pathogenic |
— |