If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
66
|
29
|
13
|
0 |
0 |
107
|
Gene and significance breakdown #
Total genes and gene combinations: 57
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
total |
Migraine, familial hemiplegic, 3
|
11
|
2
|
0 |
13
|
Pyridoxine-dependent epilepsy
|
5
|
3
|
0 |
8
|
Developmental and epileptic encephalopathy, 7
|
6
|
1
|
0 |
7
|
Seizures, benign familial neonatal, 1
|
7
|
0 |
0 |
7
|
Autosomal recessive limb-girdle muscular dystrophy type 2J
|
2
|
0 |
4
|
6
|
Seizures, benign familial infantile, 5
|
3
|
1
|
0 |
4
|
Developmental and epileptic encephalopathy 99
|
3
|
0 |
0 |
3
|
Episodic ataxia, type 9
|
2
|
1
|
0 |
3
|
Autosomal dominant nocturnal frontal lobe epilepsy 5
|
2
|
0 |
0 |
2
|
Central core myopathy
|
0 |
2
|
0 |
2
|
Developmental and epileptic encephalopathy, 4
|
2
|
0 |
0 |
2
|
Duchenne muscular dystrophy
|
2
|
0 |
0 |
2
|
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
|
2
|
0 |
0 |
2
|
FG syndrome 4
|
0 |
2
|
0 |
2
|
Glycogen storage disease, type IV
|
1
|
1
|
0 |
2
|
Intellectual disability, X-linked, with or without seizures, arx-related
|
1
|
1
|
0 |
2
|
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
|
0 |
2
|
0 |
2
|
Marfan syndrome
|
1
|
1
|
0 |
2
|
Merosin deficient congenital muscular dystrophy
|
1
|
0 |
1
|
2
|
Multiple congenital anomalies-hypotonia-seizures syndrome 2
|
1
|
1
|
0 |
2
|
Neurodevelopmental disorder with involuntary movements
|
1
|
1
|
0 |
2
|
Peroxisome biogenesis disorder 5B
|
1
|
0 |
1
|
2
|
Pyridoxal phosphate-responsive seizures
|
2
|
0 |
0 |
2
|
Rett syndrome, congenital variant
|
2
|
0 |
0 |
2
|
Andersen Tawil syndrome
|
0 |
1
|
0 |
1
|
Biotinidase deficiency
|
0 |
1
|
0 |
1
|
Cardiomyopathy
|
0 |
1
|
0 |
1
|
Charcot-Marie-Tooth disease axonal type 2O
|
0 |
0 |
1
|
1
|
Ciliary dyskinesia, primary, 40
|
1
|
0 |
0 |
1
|
Combined oxidative phosphorylation deficiency 46
|
0 |
1
|
0 |
1
|
Congenital contractural arachnodactyly
|
0 |
0 |
1
|
1
|
Developmental and epileptic encephalopathy, 19
|
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 32
|
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 41
|
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 46
|
0 |
0 |
1
|
1
|
Developmental and epileptic encephalopathy, 66
|
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 70
|
0 |
1
|
0 |
1
|
Developmental and epileptic encephalopathy, 79
|
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
|
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 9
|
0 |
0 |
1
|
1
|
Generalized epilepsy-paroxysmal dyskinesia syndrome
|
0 |
1
|
0 |
1
|
Greig cephalopolysyndactyly syndrome
|
0 |
0 |
1
|
1
|
Intellectual disability, autosomal dominant 16
|
1
|
0 |
0 |
1
|
Intellectual disability, autosomal dominant 42
|
0 |
1
|
0 |
1
|
Intellectual disability-severe speech delay-mild dysmorphism syndrome
|
0 |
0 |
1
|
1
|
Leukoencephalopathy, hereditary diffuse, with spheroids 2
|
0 |
1
|
0 |
1
|
Loeys-Dietz syndrome 1
|
0 |
1
|
0 |
1
|
Nemaline myopathy 2
|
1
|
0 |
0 |
1
|
Osteogenesis imperfecta type III
|
1
|
0 |
0 |
1
|
Pyruvate dehydrogenase E1-alpha deficiency
|
1
|
0 |
0 |
1
|
Radioulnar synostosis; Aortic valve disease 2
|
1
|
0 |
0 |
1
|
Seizure
|
1
|
0 |
0 |
1
|
Severe X-linked myotubular myopathy
|
0 |
1
|
0 |
1
|
Severe myoclonic epilepsy in infancy
|
1
|
0 |
0 |
1
|
X-linked Opitz G/BBB syndrome
|
0 |
0 |
1
|
1
|
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