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: 74
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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
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, LOC122889011 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, LOC113839516 0 1 0 1
DNM1L 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
LOC126862500, MYH2, MYHAS 0 1 0 1
LOC130058793, LOC130058794, MVP, PRRT2 0 1 0 1
MVP-DT, PRRT2 0 1 0 1
MYH2, MYHAS 0 1 0 1
PIK3R2 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
Developmental and epileptic encephalopathy, 7 10 5 0 15
Severe myoclonic epilepsy in infancy 0 11 1 12
Developmental and epileptic encephalopathy, 2 0 6 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 4 0 4
Rett syndrome, congenital variant 0 2 2 4
Seizures, benign familial neonatal, 1 4 0 0 4
Undetermined early-onset epileptic encephalopathy 0 4 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2L 0 3 0 3
Bethlem myopathy 1A 0 3 0 3
Central core myopathy 0 3 0 3
Charcot-Marie-Tooth disease type 4C 0 3 0 3
Rett syndrome 0 3 0 3
Seizures, benign familial infantile, 3 0 3 0 3
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 0 3 0 3
Actin accumulation myopathy 1 1 0 2
Amyotrophic lateral sclerosis type 16 0 2 0 2
Autosomal recessive distal spinal muscular atrophy 1 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type R18 0 2 0 2
Charcot-Marie-Tooth disease axonal type 2T 0 2 0 2
Developmental and epileptic encephalopathy, 11 0 2 0 2
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 1 1 2
Hereditary sensory and autonomic neuropathy type 6 1 1 0 2
Lissencephaly due to LIS1 mutation 0 2 0 2
Merosin deficient congenital muscular dystrophy 0 2 0 2
Microcephaly 4, primary, autosomal recessive 0 2 0 2
Myopathy, myofibrillar, 9, with early respiratory failure 0 2 0 2
Myopathy, proximal, and ophthalmoplegia 0 2 0 2
Myosclerosis 0 2 0 2
Nemaline myopathy 6 1 1 0 2
Pontocerebellar hypoplasia type 2A 0 2 0 2
Pontocerebellar hypoplasia type 2B 0 2 0 2
Ullrich congenital muscular dystrophy 1A 0 2 0 2
Autosomal dominant centronuclear myopathy 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 0 1
CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement 0 1 0 1
CEDNIK syndrome 0 1 0 1
Carnitine palmitoyl transferase II deficiency, myopathic form 0 1 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2Q 0 1 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 1
Complex cortical dysplasia with other brain malformations 7 0 0 1 1
Congenital myopathy 23 0 1 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 1
Developmental and epileptic encephalopathy, 13 0 1 0 1
Developmental and epileptic encephalopathy, 16 0 1 0 1
Developmental and epileptic encephalopathy, 17 0 0 1 1
Developmental and epileptic encephalopathy, 24 0 1 0 1
Developmental and epileptic encephalopathy, 31 0 1 0 1
Developmental and epileptic encephalopathy, 32 0 1 0 1
Developmental and epileptic encephalopathy, 34 0 1 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 1
Developmental and epileptic encephalopathy, 45 0 1 0 1
Developmental and epileptic encephalopathy, 5 0 0 1 1
Developmental and epileptic encephalopathy, 54 0 1 0 1
Developmental and epileptic encephalopathy, 8 0 1 0 1
Dystonia, intellectual disability and language impairment 0 1 0 1
Early infantile epileptic encephalopathy with suppression bursts 0 1 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 1 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 1
Febrile seizures, familial, 8 0 1 0 1
Holoprosencephaly 3 0 1 0 1
Infantile convulsions and choreoathetosis 0 1 0 1
Intellectual disability, X-linked 49 0 1 0 1
Intellectual disability, autosomal dominant 5 0 1 0 1
Landau-Kleffner syndrome 0 1 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 1 0 1
Microcephaly and chorioretinopathy 1 0 1 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 1
Seizures, benign familial infantile, 2 0 1 0 1
Seizures, benign familial neonatal, 2 0 1 0 1
Severe neonatal-onset encephalopathy with microcephaly 0 1 0 1
Spinocerebellar ataxia type 19/22 0 1 0 1
X-linked Emery-Dreifuss muscular dystrophy 0 1 0 1

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