ClinVar Miner

Variants from Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Location: Sweden  Primary collection method: clinical testing
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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
116 57 3 0 0 176

Gene and significance breakdown #

Total genes and gene combinations: 116
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
LOC102724058, SCN1A 2 2 3 7
PMM2 5 1 0 6
SCN1A 2 3 0 5
ARSA 4 0 0 4
DBT 2 2 0 4
MMUT 4 0 0 4
EIF2B5 2 1 0 3
GALNS 3 0 0 3
LARS1 2 1 0 3
MTR 3 0 0 3
NPC1 2 1 0 3
AASS 0 2 0 2
ACADVL, DVL2 2 0 0 2
AMT 2 0 0 2
ARHGEF9 0 2 0 2
ATM, C11orf65 2 0 0 2
ATP7A 2 0 0 2
BCKDHB 2 0 0 2
CFAP96, UFSP2 2 0 0 2
CHD2 1 1 0 2
CLN6 1 1 0 2
COQ8A 2 0 0 2
GALC 2 0 0 2
GCK 1 1 0 2
HNF1A 2 0 0 2
KARS1 2 0 0 2
MFSD8 2 0 0 2
MPV17 1 1 0 2
POLR3A 1 1 0 2
PPT1 2 0 0 2
SACS 2 0 0 2
SCN8A 0 2 0 2
SGSH 2 0 0 2
SLC12A5 0 2 0 2
SLC3A1 2 0 0 2
SLC4A11 1 1 0 2
USH2A 1 1 0 2
ACADS 1 0 0 1
ADA2 1 0 0 1
ADK 1 0 0 1
AGL 1 0 0 1
AKR1D1 0 1 0 1
ALDOB 1 0 0 1
ALG6 0 1 0 1
ASL 0 1 0 1
ASXL3 1 0 0 1
ATAD3A 0 1 0 1
ATP1A2 0 1 0 1
ATP1A2, LOC126805890 1 0 0 1
ATP8B1 1 0 0 1
ATXN7L3, UBTF 1 0 0 1
BCL11A 1 0 0 1
BRAF 0 1 0 1
CARD14, SGSH 1 0 0 1
CDKL5 1 0 0 1
CHRNA4 1 0 0 1
COA8 0 1 0 1
COQ7 1 0 0 1
ELAC2 1 0 0 1
FGF13 1 0 0 1
FRMD5 0 1 0 1
GABRA1 0 1 0 1
GAREM2, HADHA 1 0 0 1
GFAP 0 1 0 1
GLUL 0 1 0 1
GLUL, LOC126805944 1 0 0 1
GNB1 1 0 0 1
GRIN1 1 0 0 1
GSS 1 0 0 1
HGSNAT 1 0 0 1
HSD17B10 0 1 0 1
IRF2BPL 1 0 0 1
ISCU 1 0 0 1
ITPR1 0 1 0 1
ITPR1, LOC126806590 0 1 0 1
KCNH5 0 1 0 1
KCNQ2 0 1 0 1
KCNT1 1 0 0 1
LIPA 1 0 0 1
LIPT2 0 1 0 1
LOC126806913, OPA1 1 0 0 1
LPIN1 1 0 0 1
MAST1 0 1 0 1
MAT1A 1 0 0 1
MCCC2 1 0 0 1
MMAA 1 0 0 1
MTHFR 1 0 0 1
NDUFB7 0 1 0 1
NKX6-2 0 1 0 1
NR2F1 1 0 0 1
NUS1 1 0 0 1
OPLAH 0 1 0 1
PAH 1 0 0 1
PC 1 0 0 1
PCCA 1 0 0 1
PCDH19 1 0 0 1
PEX1 1 0 0 1
PHKA2 0 1 0 1
PIGA 1 0 0 1
PIGT 0 1 0 1
PPP2R5D 1 0 0 1
PREPL, SLC3A1 1 0 0 1
PRSS1, TRB 1 0 0 1
PYCR2 0 1 0 1
RAB3GAP1 1 0 0 1
RNASEH1 0 1 0 1
SERAC1 0 1 0 1
SLC20A2 0 1 0 1
SQSTM1 1 0 0 1
SUCLA2 0 1 0 1
TBCK 1 0 0 1
TBL1XR1 0 1 0 1
TSC2 1 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 1 0 1
WDR45 0 1 0 1
XDH 1 0 0 1

Condition and significance breakdown #

Total conditions: 113
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Condition pathogenic likely pathogenic uncertain significance total
Severe myoclonic epilepsy in infancy 4 4 0 8
Maple syrup urine disease 4 2 0 6
PMM2-congenital disorder of glycosylation 5 1 0 6
Metachromatic leukodystrophy 4 0 0 4
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 4 0 0 4
Cystinuria 3 0 0 3
Infantile liver failure syndrome 1 2 1 0 3
Leukoencephalopathy with vanishing white matter 5 2 1 0 3
Methylcobalamin deficiency type cblG 3 0 0 3
Mucopolysaccharidosis, MPS-III-A 3 0 0 3
Mucopolysaccharidosis, MPS-IV-A 3 0 0 3
Niemann-Pick disease, type C1 2 1 0 3
Ataxia-telangiectasia syndrome 2 0 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 2 0 0 2
Ceroid lipofuscinosis, neuronal, 6A 1 1 0 2
Charlevoix-Saguenay spastic ataxia 2 0 0 2
Congenital brain dysgenesis due to glutamine synthetase deficiency 1 1 0 2
Congenital hereditary endothelial dystrophy of cornea 1 1 0 2
Developmental and epileptic encephalopathy 106 2 0 0 2
Developmental and epileptic encephalopathy 94 1 1 0 2
Developmental and epileptic encephalopathy, 13 0 2 0 2
Developmental and epileptic encephalopathy, 34 0 2 0 2
Developmental and epileptic encephalopathy, 8 0 2 0 2
Galactosylceramide beta-galactosidase deficiency 2 0 0 2
Generalized epilepsy with febrile seizures plus, type 2 0 0 2 2
Hyperlysinemia 0 2 0 2
Leukoencephalopathy, progressive, infantile-onset, with or without deafness 2 0 0 2
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 1 1 0 2
Maturity-onset diabetes of the young type 2 1 1 0 2
Maturity-onset diabetes of the young type 3 2 0 0 2
Menkes kinky-hair syndrome 2 0 0 2
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 1 0 2
Neuronal ceroid lipofuscinosis 1 2 0 0 2
Neuronal ceroid lipofuscinosis 7 2 0 0 2
Non-ketotic hyperglycinemia 2 0 0 2
Spinocerebellar ataxia type 29 0 2 0 2
Usher syndrome type 2A 1 1 0 2
Very long chain acyl-CoA dehydrogenase deficiency 2 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 1 0 1
5-Oxoprolinase deficiency 0 1 0 1
ALG6-congenital disorder of glycosylation 1C 0 1 0 1
Adenosine kinase deficiency 1 0 0 1
Alexander disease 0 1 0 1
Argininosuccinate lyase deficiency 0 1 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 1 0 0 1
Autosomal dominant optic atrophy classic form 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 0 0 1
Combined oxidative phosphorylation defect type 17 1 0 0 1
Congenital bile acid synthesis defect 2 0 1 0 1
Crigler-Najjar syndrome, type II 0 1 0 1
Deficiency of butyryl-CoA dehydrogenase 1 0 0 1
Developmental and epileptic encephalopathy 112 0 1 0 1
Developmental and epileptic encephalopathy 98 0 1 0 1
Developmental and epileptic encephalopathy, 19 0 1 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 1
Developmental and epileptic encephalopathy, 7 0 1 0 1
Developmental and epileptic encephalopathy, 9 1 0 0 1
Developmental and epileptic encephalopathy, 90 1 0 0 1
Dias-Logan syndrome 1 0 0 1
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 1 0 1
Epilepsy 0 1 0 1
Epilepsy syndrome 1 0 0 1
Glycogen storage disease IXa1 0 1 0 1
Glycogen storage disease type III 1 0 0 1
HSD10 mitochondrial disease 0 1 0 1
Harel-Yoon syndrome 0 1 0 1
Hepatic methionine adenosyltransferase deficiency 1 0 0 1
Hereditary fructosuria 1 0 0 1
Hereditary myopathy with lactic acidosis due to ISCU deficiency 1 0 0 1
Hereditary pancreatitis 1 0 0 1
Hereditary xanthinuria type 1 1 0 0 1
Hogue-Janssens syndrome 1 1 0 0 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 0 0 1
Hypomyelinating leukodystrophy 10 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 1
Idiopathic basal ganglia calcification 1 0 1 0 1
Inherited glutathione synthetase deficiency 1 0 0 1
Intellectual disability, autosomal dominant 41 0 1 0 1
Intellectual disability, autosomal dominant 42 1 0 0 1
Intellectual disability, autosomal dominant 55, with seizures 1 0 0 1
Intellectual disability, autosomal dominant 8 1 0 0 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 0 0 1
Lysosomal acid lipase deficiency 1 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 1 0 1
Methylmalonic aciduria, cblA type 1 0 0 1
Migraine, familial hemiplegic, 2 1 0 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 1 0 1
Mitochondrial complex 4 deficiency, nuclear type 17 0 1 0 1
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes 0 1 0 1
Mucopolysaccharidosis, MPS-III-C 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 1 0 1
Myoglobinuria, acute recurrent, autosomal recessive 1 0 0 1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 1 0 0 1
Neurodegeneration with brain iron accumulation 5 0 1 0 1
Neurodevelopmental disorder with eye movement abnormalities and ataxia 0 1 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 1
Noonan syndrome 7 0 1 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 0 1
Phenylketonuria 1 0 0 1
Primary coenzyme Q10 deficiency 8 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 0 1 0 1
Progressive familial intrahepatic cholestasis type 1 1 0 0 1
Propionic acidemia 1 0 0 1
Pyruvate carboxylase deficiency 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 1 0 1
Tuberous sclerosis 2 1 0 0 1
Vasculitis due to ADA2 deficiency 1 0 0 1
Warburg micro syndrome 1 1 0 0 1
West syndrome 0 0 1 1

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