ClinVar Miner

Variants from NeuroMeGen,Hospital Clinico Santiago de Compostela

Location: Spain — 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
17 125 7 0 0 149

Gene and significance breakdown #

Total genes and gene combinations: 73
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
KCNQ2 14 5 0 19
TTN 0 7 0 7
CDKL5 0 6 0 6
SCN1A 0 5 1 6
LOC102724058, SCN1A 0 5 0 5
SCN2A 0 5 0 5
FOXG1 0 2 2 4
ANO5 0 3 0 3
COL6A2 0 3 0 3
GPHN 0 3 0 3
MECP2 0 3 0 3
RYR1 0 3 0 3
SH3TC2 0 3 0 3
ACTA1 1 1 0 2
CAPN3 0 2 0 2
COL6A1 0 2 0 2
DST 1 1 0 2
GRIN2A 0 2 0 2
IGHMBP2 0 2 0 2
KBTBD13 1 1 0 2
KNL1 0 2 0 2
LAMA2 0 2 0 2
MME 0 2 0 2
MYH2, MYHAS 0 2 0 2
PAFAH1B1 0 2 0 2
RBFOX1 0 2 0 2
SIGMAR1 0 2 0 2
SRGAP2 0 2 0 2
SYN1 0 1 1 2
TRAPPC11 0 2 0 2
TSEN2 0 2 0 2
TSEN54 0 2 0 2
ARHGEF15 0 1 0 1
ARHGEF9 0 1 0 1
ARX 0 1 0 1
CLCN4 0 1 0 1
COL6A3 0 1 0 1
CPT2 0 1 0 1
DCX 0 1 0 1
DEPDC5, RFPL2 0 1 0 1
DHTKD1 0 1 0 1
DNM1 0 1 0 1
DNM1L, YARS2 0 1 0 1
DNM2 0 1 0 1
DYSF 0 1 0 1
EMD 0 1 0 1
GABRB1 0 1 0 1
GABRG2 0 1 0 1
GGT2, SNAP29 0 1 0 1
GJB1 0 1 0 1
GNAO1 0 0 1 1
HCN1 0 1 0 1
HNRNPU 0 1 0 1
KCNA2 0 1 0 1
KCND3 0 1 0 1
KCNQ3 0 1 0 1
KIF11 0 1 0 1
LOC113960611, SLC12A5 0 1 0 1
MVP, PRRT2 0 1 0 1
PIK3R2 0 1 0 1
PRRT2 0 1 0 1
RHOBTB2 0 1 0 1
SCN1A, SCN9A 0 1 0 1
SCN8A 0 1 0 1
SHH 0 1 0 1
SPTAN1 0 0 1 1
STXBP1 0 1 0 1
SYNGAP1 0 1 0 1
TBC1D24 0 1 0 1
TPM2 0 1 0 1
TUBB2A 0 1 0 1
TUBB2B 0 0 1 1
TUBGCP6 0 1 0 1

Condition and significance breakdown #

Total conditions: 75
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Condition pathogenic likely pathogenic uncertain significance total
Early infantile epileptic encephalopathy 7 10 5 0 15
Severe myoclonic epilepsy in infancy 0 11 1 12
Early infantile epileptic encephalopathy 2 0 6 0 6
Benign familial neonatal seizures 1 4 0 0 4
Limb-girdle muscular dystrophy, type 2J 0 4 0 4
Rett syndrome, congenital variant 0 2 2 4
Undetermined early-onset epileptic encephalopathy 0 4 0 4
Benign familial neonatal-infantile seizures 0 3 0 3
Bethlem myopathy 1 0 3 0 3
Charcot-Marie-Tooth disease, type 4C 0 3 0 3
Limb-girdle muscular dystrophy, type 2L 0 3 0 3
Molybdenum cofactor deficiency, complementation group C 0 3 0 3
Myopathy, Central Core 0 3 0 3
Rett syndrome 0 3 0 3
Amyotrophic lateral sclerosis 16, juvenile 0 2 0 2
Charcot-Marie-Tooth disease, axonal, type 2T 0 2 0 2
Early infantile epileptic encephalopathy 11 0 2 0 2
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 0 1 1 2
Hereditary myopathy with early respiratory failure 0 2 0 2
Inclusion body myopathy 3 0 2 0 2
Limb-girdle muscular dystrophy, type 2A 0 2 0 2
Limb-girdle muscular dystrophy, type 2S 0 2 0 2
Lissencephaly 1 0 2 0 2
Merosin deficient congenital muscular dystrophy 0 2 0 2
Myosclerosis, autosomal recessive 0 2 0 2
Nemaline myopathy 3 1 1 0 2
Nemaline myopathy 6 1 1 0 2
Neuropathy, hereditary sensory and autonomic, type VI 1 1 0 2
Pontocerebellar hypoplasia type 2A 0 2 0 2
Pontocerebellar hypoplasia type 2B 0 2 0 2
Primary autosomal recessive microcephaly 4 0 2 0 2
Spinal muscular atrophy, distal, autosomal recessive, 1 0 2 0 2
Ullrich congenital muscular dystrophy 1 0 2 0 2
Benign familial neonatal seizures 2 0 1 0 1
CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement 0 1 0 1
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 0 1 0 1
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2Q 0 1 0 1
Cortical dysplasia, complex, with other brain malformations 5 0 1 0 1
Dystonia, intellectual disability and language impairment 0 1 0 1
Early infantile epileptic encephalopathy 0 1 0 1
Early infantile epileptic encephalopathy 13 0 1 0 1
Early infantile epileptic encephalopathy 16 0 1 0 1
Early infantile epileptic encephalopathy 17 0 0 1 1
Early infantile epileptic encephalopathy 34 0 1 0 1
Early infantile epileptic encephalopathy 4 0 1 0 1
Early infantile epileptic encephalopathy 5 0 0 1 1
Early infantile epileptic encephalopathy 8 0 1 0 1
Emery-Dreifuss muscular dystrophy 1, X-linked 0 1 0 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 0 1 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 1 0 1
Epileptic encephalopathy, early infantile, 1 0 1 0 1
Epileptic encephalopathy, early infantile, 24 0 1 0 1
Epileptic encephalopathy, early infantile, 31 0 1 0 1
Epileptic encephalopathy, early infantile, 32 0 1 0 1
Epileptic encephalopathy, early infantile, 45 0 1 0 1
Epileptic encephalopathy, early infantile, 54 0 1 0 1
Familial febrile seizures 8 0 1 0 1
Holoprosencephaly 3 0 1 0 1
Infantile convulsions and paroxysmal choreoathetosis, familial 0 1 0 1
Limb-girdle muscular dystrophy, type 2B 0 1 0 1
Lissencephaly, X-linked 0 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 1 0 1
Mental retardation 49, X-linked 0 1 0 1
Mental retardation, autosomal dominant 5 0 1 0 1
Microcephaly with chorioretinopathy, autosomal recessive 0 1 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0 1 0 1
Myopathy, centronuclear, 1 0 1 0 1
Nemaline myopathy 4 0 1 0 1
Polymicrogyria, asymmetric 0 0 1 1
Seizures, benign familial infantile, 2 0 1 0 1
Severe neonatal-onset encephalopathy with microcephaly 0 1 0 1
Spinocerebellar ataxia 19 0 1 0 1
X-linked hereditary motor and sensory neuropathy 0 1 0 1

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