ClinVar Miner

Variants from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

Location: Argentina  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
18 31 19 0 0 68

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SACS 2 2 0 4
SYNE1 0 3 1 4
ATM 1 1 1 3
SETX 0 1 2 3
DDHD2 1 0 1 2
DMD 2 0 0 2
EIF2B5 0 2 0 2
GJC2 0 1 1 2
IGHMBP2 1 0 1 2
OPA1 0 0 2 2
RNASEH2C 0 1 1 2
SCN2A 0 2 0 2
SPG11 2 0 0 2
SPTBN2 0 0 2 2
ABCD1 0 1 0 1
ATL1 1 0 0 1
ATM, C11orf65 0 1 0 1
C19orf12 0 1 0 1
CACNA1A 1 0 0 1
CAMTA1 0 0 1 1
CC2D2A 1 0 0 1
CHD8 0 1 0 1
COL4A1 0 1 0 1
CSF1R 0 1 0 1
FOXG1 0 1 0 1
GABRA1 0 1 0 1
GATA6 1 0 0 1
GFAP, LOC130060994 0 1 0 1
HEPACAM 0 1 0 1
HNRNPU 0 0 1 1
ITPR1, LOC126806590 0 0 1 1
JMJD8, STUB1 0 1 0 1
KCNQ2 0 1 0 1
KMT2D 0 1 0 1
L1CAM 0 1 0 1
LOC102724058, SCN1A 0 1 0 1
MFSD8 0 1 0 1
NEB 1 0 0 1
NEB, RIF1 1 0 0 1
POLR3A 0 1 0 1
PTEN 0 0 1 1
RHEB 0 1 0 1
RNASEH2B 0 0 1 1
SCN11A 0 0 1 1
SPAST 1 0 0 1
STXBP1 0 0 1 1
TSC1 1 0 0 1
WDR45 1 0 0 1

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance total
Ataxia-telangiectasia syndrome 1 2 1 4
Autosomal recessive ataxia, Beauce type 0 3 1 4
Charlevoix-Saguenay spastic ataxia 2 2 0 4
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 1 2 3
Aicardi-Goutieres syndrome 3 0 1 1 2
Autosomal recessive distal spinal muscular atrophy 1 1 0 1 2
Developmental and epileptic encephalopathy, 11 0 2 0 2
Duchenne muscular dystrophy 2 0 0 2
Hereditary spastic paraplegia 11 2 0 0 2
Hereditary spastic paraplegia 54 1 0 1 2
Hypomyelinating leukodystrophy 2 0 1 1 2
Nemaline myopathy 2 2 0 0 2
Spinocerebellar ataxia type 5 0 0 2 2
Vanishing white matter disease 0 2 0 2
Adrenoleukodystrophy 0 1 0 1
Aicardi-Goutieres syndrome 2 0 0 1 1
Alexander disease 0 1 0 1
Autosomal dominant optic atrophy classic form 0 0 1 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 1
Developmental and epileptic encephalopathy, 19 0 1 0 1
Developmental and epileptic encephalopathy, 4 0 0 1 1
Developmental and epileptic encephalopathy, 54 0 0 1 1
Developmental and epileptic encephalopathy, 7 0 1 0 1
Episodic ataxia type 2 1 0 0 1
Hemimegalencephaly 0 1 0 1
Hereditary diffuse leukoencephalopathy with spheroids 0 1 0 1
Hereditary sensory and autonomic neuropathy type 7 0 0 1 1
Hereditary spastic paraplegia 3A 1 0 0 1
Hereditary spastic paraplegia 4 1 0 0 1
Hypomyelinating leukodystrophy 4 0 1 0 1
Intellectual developmental disorder with autism and macrocephaly 0 1 0 1
Joubert syndrome 9 1 0 0 1
Kabuki syndrome 1 0 1 0 1
Macrocephaly-autism syndrome 0 0 1 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 1 0 1
Neurodegeneration with brain iron accumulation 4 0 1 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 1
Neuronal ceroid lipofuscinosis 7 0 1 0 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0 0 1 1
Rett syndrome, congenital variant 0 1 0 1
Severe myoclonic epilepsy in infancy 0 1 0 1
Spinocerebellar ataxia 48 0 1 0 1
Spinocerebellar ataxia type 29 0 0 1 1
Tetralogy of Fallot 1 0 0 1
Tuberous sclerosis 1 1 0 0 1
X-linked hydrocephalus syndrome 0 1 0 1

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