| RS2151735128 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151735391 |
WWOX
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 28 |
| RS2151735444 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151736491 |
ANKRD11
|
Health Risk |
Pathogenic |
— |
| RS2151736638 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2151736830 |
ANKRD11
|
Health Risk |
Likely pathogenic |
Neurodevelopmental abnormality, Decreased total neutrophil count |
| RS2151737119 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151737344 |
PHKB
|
Health Risk |
Likely pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2151738483 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2151738493 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2151739379 |
PHKB
|
Health Risk |
Pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2151739536 |
EVC2
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2151739558 |
EVC2
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2151739862 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2151740576 |
FANCI
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2151740638 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2151740671 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2151741177 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2151742515 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant polycystic kidney disease, Polycystic kidney disease |
| RS2151742685 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151742756 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151743445 |
ANKRD11
|
Health Risk |
Likely pathogenic |
— |
| RS2151743944 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151744236 |
TCF12
|
Health Risk |
Likely pathogenic |
Developmental disorder, Developmental disorder |
| RS2151744307 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151744973 |
ANKRD11
|
Health Risk |
Pathogenic |
— |
| RS2151745140 |
ANKRD11
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2151745332 |
SCN1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 5, Brugada syndrome 5 |
| RS2151745705 |
ANKRD11
|
Health Risk |
Pathogenic/Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151745961 |
SCN1B
|
Health Risk |
Likely pathogenic |
— |
| RS2151746011 |
ANKRD11
|
Health Risk |
Pathogenic |
— |
| RS2151746362 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151746369 |
SCN1B
|
Health Risk |
Pathogenic |
Brugada syndrome 5, Brugada syndrome 5 |
| RS2151746426 |
SCN1B
|
Health Risk |
Pathogenic |
Brugada syndrome 5, Brugada syndrome 5 |
| RS2151746638 |
SCN1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 5, Atrial fibrillation |
| RS2151748289 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2151748829 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2151748896 |
ANKRD11
|
Health Risk |
Pathogenic |
— |
| RS2151749063 |
ANKRD11
|
Health Risk |
Conflicting classifications of pathogenicity |
KBG syndrome, KBG syndrome |
| RS2151749304 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2151749530 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151749755 |
COG4
|
Health Risk |
Pathogenic |
COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS2151750059 |
EVC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2151750068 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151750076 |
EVC2
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2151750082 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2151750195 |
EVC2
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2151750249 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151751954 |
ANKRD11
|
Health Risk |
Likely pathogenic |
— |
| RS2151751963 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151752804 |
ANKRD11
|
Health Risk |
Pathogenic |
Global developmental delay, Global developmental delay |
| RS2151753014 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151753260 |
ANKRD11
|
Health Risk |
Pathogenic/Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151753736 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151754069 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2151754256 |
FANCI
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia, Fanconi anemia |
| RS2151754276 |
ANKRD11
|
Health Risk |
Pathogenic |
Global developmental delay, Inborn genetic diseases |
| RS2151754452 |
PKD1
|
Health Risk |
Pathogenic |
Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS2151755532 |
ANKRD11
|
Health Risk |
Pathogenic/Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151755659 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2151755878 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2151756041 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2151756343 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151757918 |
ANKRD11
|
Health Risk |
Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151758141 |
COG4
|
Health Risk |
Likely pathogenic |
COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS2151758219 |
COG4
|
Health Risk |
Pathogenic |
COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation |
| RS2151758291 |
ANKRD11
|
Health Risk |
Likely pathogenic |
— |
| RS2151758908 |
ANKRD11
|
Health Risk |
Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151759406 |
ANKRD11
|
Health Risk |
Pathogenic |
— |
| RS2151759503 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151759808 |
ANKRD11
|
Health Risk |
Pathogenic |
— |
| RS2151760280 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151760656 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151760723 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151761128 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151761217 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151761457 |
ANKRD11
|
Health Risk |
Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151761605 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151761823 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2151761883 |
ANKRD11
|
Health Risk |
Likely pathogenic |
— |
| RS2151762177 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151762237 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151762320 |
ANKRD11
|
Health Risk |
Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151762916 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151763044 |
ANKRD11
|
Health Risk |
Likely pathogenic |
Global developmental delay, Global developmental delay |
| RS2151763094 |
ANKRD11
|
Health Risk |
Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151763801 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151763931 |
ANKRD11
|
Health Risk |
Pathogenic |
— |
| RS2151763976 |
ANKRD11
|
Health Risk |
Pathogenic |
See cases, See cases |
| RS2151764291 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151764381 |
ANKRD11
|
Health Risk |
Pathogenic |
— |
| RS2151765965 |
ANKRD11
|
Health Risk |
Pathogenic |
— |
| RS2151766359 |
ANKRD11
|
Health Risk |
Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151766442 |
ANKRD11
|
Health Risk |
Likely pathogenic |
KBG syndrome, KBG syndrome |
| RS2151766539 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS2151766664 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2151766718 |
EVC
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2151766800 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2151766822 |
ANKRD11
|
Health Risk |
Pathogenic |
Global developmental delay, Global developmental delay |
| RS2151766847 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |