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 |
5
|
20
|
103
|
0 |
0 |
128
|
Gene and significance breakdown #
Total genes and gene combinations: 83
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
ARSA
|
1
|
2
|
6
|
9
|
GJC2
|
0 |
1
|
6
|
7
|
GALC
|
0 |
1
|
5
|
6
|
ABCD1
|
0 |
0 |
5
|
5
|
HEXA
|
0 |
3
|
1
|
4
|
L2HGDH
|
1
|
0 |
3
|
4
|
ASPA, SPATA22
|
0 |
0 |
3
|
3
|
MLC1
|
0 |
1
|
2
|
3
|
ATRIP, ATRIP-TREX1, TREX1
|
0 |
1
|
1
|
2
|
CLN6
|
0 |
0 |
2
|
2
|
FUCA1
|
0 |
1
|
1
|
2
|
FUCA1, LOC126805661
|
0 |
0 |
2
|
2
|
GRIN2A
|
0 |
0 |
2
|
2
|
HEXB
|
0 |
1
|
1
|
2
|
LAMA2
|
0 |
0 |
2
|
2
|
LOC125446261, MLC1
|
0 |
0 |
2
|
2
|
NDUFS1
|
0 |
0 |
2
|
2
|
PEX10
|
0 |
0 |
2
|
2
|
RARS2
|
0 |
0 |
2
|
2
|
SURF1
|
0 |
0 |
2
|
2
|
AARS1
|
0 |
0 |
1
|
1
|
ABCB6
|
0 |
0 |
1
|
1
|
ACOX1
|
0 |
1
|
0 |
1
|
ADPRS
|
0 |
0 |
1
|
1
|
BTD
|
0 |
1
|
0 |
1
|
CHKB, CHKB-CPT1B
|
0 |
0 |
1
|
1
|
CILK1
|
0 |
0 |
1
|
1
|
COA8
|
0 |
1
|
0 |
1
|
COQ4
|
0 |
0 |
1
|
1
|
CYC1
|
0 |
0 |
1
|
1
|
DCPS, GSEC
|
0 |
0 |
1
|
1
|
EARS2
|
0 |
0 |
1
|
1
|
ECHS1
|
1
|
0 |
0 |
1
|
EIF2B3
|
0 |
0 |
1
|
1
|
EIF2B4, GTF3C2
|
0 |
1
|
0 |
1
|
EPG5
|
0 |
0 |
1
|
1
|
ERCC8
|
0 |
0 |
1
|
1
|
FBXL4
|
0 |
0 |
1
|
1
|
FKRP
|
0 |
0 |
1
|
1
|
GCDH
|
0 |
1
|
0 |
1
|
GLB1
|
0 |
0 |
1
|
1
|
HSD17B4
|
0 |
0 |
1
|
1
|
ISCA2
|
0 |
0 |
1
|
1
|
LAMA1
|
0 |
0 |
1
|
1
|
LIAS
|
0 |
0 |
1
|
1
|
LOC129992330, SEPSECS
|
0 |
0 |
1
|
1
|
LOC129993881, MOCS2
|
0 |
0 |
1
|
1
|
LOC130064279, SDHAF1
|
0 |
0 |
1
|
1
|
LYRM7
|
0 |
0 |
1
|
1
|
MCOLN1
|
0 |
0 |
1
|
1
|
MFSD8
|
0 |
0 |
1
|
1
|
MMACHC
|
0 |
0 |
1
|
1
|
MMUT
|
0 |
0 |
1
|
1
|
NARS2
|
0 |
0 |
1
|
1
|
NDUFA9
|
0 |
0 |
1
|
1
|
NDUFB9
|
1
|
0 |
0 |
1
|
NDUFS2
|
0 |
0 |
1
|
1
|
NDUFS4
|
0 |
1
|
0 |
1
|
NDUFS7
|
0 |
0 |
1
|
1
|
NDUFS8
|
0 |
0 |
1
|
1
|
NKX6-2
|
0 |
0 |
1
|
1
|
OCRL
|
0 |
1
|
0 |
1
|
PDSS1
|
0 |
0 |
1
|
1
|
PEX12
|
0 |
0 |
1
|
1
|
PEX13
|
0 |
0 |
1
|
1
|
PEX6
|
0 |
0 |
1
|
1
|
PLAA
|
0 |
0 |
1
|
1
|
POLR1C
|
0 |
0 |
1
|
1
|
POLR3A
|
0 |
0 |
1
|
1
|
POLR3B
|
0 |
0 |
1
|
1
|
PPT1
|
0 |
0 |
1
|
1
|
PTEN
|
0 |
0 |
1
|
1
|
RNASET2
|
0 |
0 |
1
|
1
|
SAMHD1
|
0 |
0 |
1
|
1
|
SDHB
|
0 |
0 |
1
|
1
|
SLC17A5
|
0 |
0 |
1
|
1
|
SLC19A3
|
0 |
1
|
0 |
1
|
SLC25A12
|
0 |
0 |
1
|
1
|
SMPD1
|
0 |
0 |
1
|
1
|
SUCLA2
|
0 |
0 |
1
|
1
|
TBCK
|
0 |
1
|
0 |
1
|
TNK2
|
1
|
0 |
0 |
1
|
TRAK1
|
0 |
0 |
1
|
1
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
total |
Metachromatic leukodystrophy
|
1
|
2
|
6
|
9
|
Hypomyelinating leukodystrophy 2
|
0 |
1
|
6
|
7
|
Galactosylceramide beta-galactosidase deficiency
|
0 |
1
|
5
|
6
|
Adrenoleukodystrophy
|
0 |
0 |
5
|
5
|
Megalencephalic leukoencephalopathy with subcortical cysts 1
|
0 |
1
|
4
|
5
|
Fucosidosis
|
0 |
1
|
3
|
4
|
L-2-hydroxyglutaric aciduria
|
1
|
0 |
3
|
4
|
Tay-Sachs disease
|
0 |
3
|
1
|
4
|
Spongy degeneration of central nervous system
|
0 |
0 |
3
|
3
|
Aicardi-Goutieres syndrome 1
|
0 |
1
|
1
|
2
|
Ceroid lipofuscinosis, neuronal, 6A
|
0 |
0 |
2
|
2
|
Landau-Kleffner syndrome
|
0 |
0 |
2
|
2
|
Merosin deficient congenital muscular dystrophy
|
0 |
0 |
2
|
2
|
Mitochondrial complex 1 deficiency, nuclear type 5
|
0 |
0 |
2
|
2
|
Mitochondrial complex II deficiency, nuclear type 1
|
0 |
0 |
2
|
2
|
Pontocerebellar hypoplasia type 6
|
0 |
0 |
2
|
2
|
Sandhoff disease
|
0 |
1
|
1
|
2
|
Vanishing white matter disease
|
0 |
1
|
1
|
2
|
Acyl-CoA oxidase deficiency
|
0 |
1
|
0 |
1
|
Aicardi-Goutieres syndrome 5
|
0 |
0 |
1
|
1
|
Al-Raqad syndrome
|
0 |
0 |
1
|
1
|
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
|
0 |
0 |
1
|
1
|
Bifunctional peroxisomal enzyme deficiency
|
0 |
0 |
1
|
1
|
Biotin-responsive basal ganglia disease
|
0 |
1
|
0 |
1
|
Biotinidase deficiency
|
0 |
1
|
0 |
1
|
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29
|
0 |
0 |
1
|
1
|
Cobalamin C disease
|
0 |
0 |
1
|
1
|
Cockayne syndrome type 1
|
0 |
0 |
1
|
1
|
Combined oxidative phosphorylation defect type 24
|
0 |
0 |
1
|
1
|
Cowden syndrome 1
|
0 |
0 |
1
|
1
|
Cystic leukoencephalopathy without megalencephaly
|
0 |
0 |
1
|
1
|
Cytochrome-c oxidase deficiency disease
|
0 |
0 |
1
|
1
|
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
|
0 |
0 |
1
|
1
|
Developmental and epileptic encephalopathy, 29
|
0 |
0 |
1
|
1
|
Developmental and epileptic encephalopathy, 39
|
0 |
0 |
1
|
1
|
Developmental and epileptic encephalopathy, 68
|
0 |
0 |
1
|
1
|
Epilepsy, juvenile myoclonic, susceptibility to, 10
|
0 |
0 |
1
|
1
|
Epileptic encephalopathy
|
1
|
0 |
0 |
1
|
Glutaric aciduria, type 1
|
0 |
1
|
0 |
1
|
Hypomyelinating leukodystrophy 11
|
0 |
0 |
1
|
1
|
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
|
0 |
0 |
1
|
1
|
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
|
0 |
1
|
0 |
1
|
Infantile GM1 gangliosidosis
|
0 |
0 |
1
|
1
|
Leigh syndrome
|
0 |
0 |
1
|
1
|
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
|
0 |
0 |
1
|
1
|
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
|
0 |
0 |
1
|
1
|
Lipoic acid synthetase deficiency
|
0 |
0 |
1
|
1
|
Lowe syndrome
|
0 |
1
|
0 |
1
|
Megaconial type congenital muscular dystrophy
|
0 |
0 |
1
|
1
|
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
|
0 |
0 |
1
|
1
|
Microphthalmia, isolated, with coloboma 7
|
0 |
0 |
1
|
1
|
Mitochondrial DNA depletion syndrome 13
|
0 |
0 |
1
|
1
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
0 |
0 |
1
|
1
|
Mitochondrial complex 1 deficiency, nuclear type 2
|
0 |
0 |
1
|
1
|
Mitochondrial complex 1 deficiency, nuclear type 24
|
1
|
0 |
0 |
1
|
Mitochondrial complex 1 deficiency, nuclear type 26
|
0 |
0 |
1
|
1
|
Mitochondrial complex 1 deficiency, nuclear type 3
|
0 |
0 |
1
|
1
|
Mitochondrial complex 1 deficiency, nuclear type 6
|
0 |
0 |
1
|
1
|
Mitochondrial complex 4 deficiency, nuclear type 17
|
0 |
1
|
0 |
1
|
Mitochondrial complex I deficiency, nuclear type 1
|
0 |
1
|
0 |
1
|
Mitochondrial complex III deficiency nuclear type 6
|
0 |
0 |
1
|
1
|
Mitochondrial complex III deficiency nuclear type 8
|
0 |
0 |
1
|
1
|
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
|
1
|
0 |
0 |
1
|
Mucolipidosis type IV
|
0 |
0 |
1
|
1
|
Multiple mitochondrial dysfunctions syndrome 4
|
0 |
0 |
1
|
1
|
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
|
0 |
0 |
1
|
1
|
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
|
0 |
0 |
1
|
1
|
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
|
0 |
0 |
1
|
1
|
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
0 |
0 |
1
|
1
|
Neuronal ceroid lipofuscinosis 1
|
0 |
0 |
1
|
1
|
Neuronal ceroid lipofuscinosis 7
|
0 |
0 |
1
|
1
|
Niemann-Pick disease, type B; Niemann-Pick disease, type A
|
0 |
0 |
1
|
1
|
Peroxisome biogenesis disorder 11A (Zellweger)
|
0 |
0 |
1
|
1
|
Peroxisome biogenesis disorder 3A (Zellweger)
|
0 |
0 |
1
|
1
|
Peroxisome biogenesis disorder 4A (Zellweger)
|
0 |
0 |
1
|
1
|
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B
|
0 |
0 |
1
|
1
|
Peroxisome biogenesis disorder 6A (Zellweger)
|
0 |
0 |
1
|
1
|
Peroxisome biogenesis disorder 6B
|
0 |
0 |
1
|
1
|
Pontocerebellar hypoplasia type 2D
|
0 |
0 |
1
|
1
|
Sialic acid storage disease, severe infantile type
|
0 |
0 |
1
|
1
|
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
|
0 |
0 |
1
|
1
|
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
|
0 |
0 |
1
|
1
|
Vici syndrome
|
0 |
0 |
1
|
1
|
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