| RS1554761310 |
FKTN
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1554761402 |
FKTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1554761462 |
FKTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1554761915 |
FXN
|
Health Risk |
Likely pathogenic |
— |
| RS1554762671 |
LRSAM1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1554762735 |
FXN
|
Health Risk |
Likely pathogenic |
— |
| RS1554763017 |
LRSAM1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases |
| RS1554763035 |
LRSAM1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1554763770 |
GPAA1
|
Health Risk |
Likely pathogenic |
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1554763955 |
GPAA1
|
Health Risk |
Likely pathogenic |
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1554764058 |
GPAA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1554764067 |
GPAA1
|
Health Risk |
Pathogenic |
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1554764080 |
GPAA1
|
Health Risk |
Pathogenic |
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1554764151 |
GPAA1
|
Health Risk |
Pathogenic |
— |
| RS1554765140 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1554765173 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1554766808 |
FKTN
|
Health Risk |
Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1554766855 |
FKTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1554766898 |
FKTN
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1554767313 |
DNM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS1554767317 |
DNM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS1554767335 |
SPTAN1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 5 |
| RS1554767735 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1554767737 |
ZMYND11
|
Health Risk |
Pathogenic |
— |
| RS1554767754 |
ZMYND11
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 30 |
| RS1554768224 |
SURF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 4K, Leigh syndrome |
| RS1554768236 |
SURF1
|
Health Risk |
Likely pathogenic |
— |
| RS1554768245 |
SYNE1
|
Health Risk |
Pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS1554768246 |
SURF1
|
Health Risk |
Likely pathogenic |
Leigh syndrome, Leigh syndrome |
| RS1554768333 |
SURF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Leigh syndrome, Leigh syndrome |
| RS1554768709 |
SURF1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554768992 |
SPTAN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 5 |
| RS1554769022 |
SPTAN1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 5 |
| RS1554769099 |
SPTAN1
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1554770044 |
GRIN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1554770046 |
GRIN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1554770054 |
GRIN1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770057 |
GRIN1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 101, Developmental and epileptic encephalopathy 101 |
| RS1554770064 |
GRIN1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770185 |
GRIN1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770221 |
GRIN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive |
| RS1554770243 |
GRIN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770248 |
GRIN1
|
Health Risk |
Pathogenic |
— |
| RS1554770258 |
GRIN1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554770262 |
GRIN1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770437 |
GRIN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770444 |
GRIN1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770453 |
DYNC2I2
|
Health Risk |
Pathogenic/Likely pathogenic |
Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1554770589 |
GRIN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770590 |
GRIN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1554770620 |
DYNC2I2
|
Health Risk |
Pathogenic/Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS1554770624 |
GRIN1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770628 |
GRIN1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770659 |
GRIN1
|
Health Risk |
Pathogenic |
Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes |
| RS1554770667 |
GRIN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1554771066 |
DYNC2I2
|
Health Risk |
Pathogenic/Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS1554771175 |
DYNC2I2
|
Health Risk |
Pathogenic/Likely pathogenic |
Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1554771469 |
KCNT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 14 |
| RS1554771476 |
KCNT1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 14 |
| RS1554772469 |
POMT1
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy |
| RS1554772552 |
COL5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1554772913 |
DNM1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 31A |
| RS1554772945 |
DNM1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 31A |
| RS1554772959 |
DNM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 31A |
| RS1554772974 |
DNM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 31A |
| RS1554773448 |
POMT1
|
Health Risk |
Likely pathogenic |
Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1554773487 |
DNM1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554773974 |
POMT1
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1554774322 |
KCNT1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 14 |
| RS1554774362 |
KCNT1
|
Health Risk |
Likely pathogenic |
— |
| RS1554774401 |
DNM1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 31A |
| RS1554774575 |
DNM1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 31A |
| RS1554774587 |
DNM1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS1554774708 |
DNM1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS1554774973 |
NTRK2
|
Health Risk |
Pathogenic |
Obesity, hyperphagia |
| RS1554775668 |
ITGA8
|
Health Risk |
Pathogenic |
— |
| RS1554775956 |
STXBP1
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1554775960 |
STXBP1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS1554776228 |
STXBP1
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1554776342 |
SET
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Intellectual disability |
| RS1554776446 |
WAC
|
Health Risk |
Pathogenic |
— |
| RS1554776447 |
WAC
|
Health Risk |
Pathogenic |
— |
| RS1554776457 |
WAC
|
Health Risk |
Pathogenic |
— |
| RS1554776500 |
SET
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 58 |
| RS1554776674 |
STXBP1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS1554776842 |
STXBP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Infantile epilepsy syndrome |
| RS1554776853 |
STXBP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS1554776933 |
SET
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 58 |
| RS1554776938 |
SET
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 58 |
| RS1554776948 |
STXBP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS1554776954 |
STXBP1
|
Health Risk |
Pathogenic |
Global developmental delay, Atypical behavior |
| RS1554777375 |
STXBP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554777464 |
STXBP1
|
Health Risk |
Pathogenic |
Uterine corpus endometrial carcinoma, Early-infantile DEE |
| RS1554777470 |
STXBP1
|
Health Risk |
Pathogenic |
Infantile epilepsy syndrome, Early-infantile DEE |
| RS1554777474 |
STXBP1
|
Health Risk |
Likely pathogenic |
— |
| RS1554777480 |
STXBP1
|
Health Risk |
Pathogenic |
Severe global developmental delay, Microcephaly |
| RS1554777488 |
STXBP1
|
Health Risk |
Likely pathogenic |
— |
| RS1554777496 |
STXBP1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS1554777708 |
STXBP1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS1554777718 |
STXBP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Early-infantile DEE |