ClinVar Miner

Variants from Laboratoire de Cytogenetique,Hospices Civils de Lyon

Location: France — 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
61 50 24 1 0 136

Gene and significance breakdown #

Total genes and gene combinations: 90
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
KMT2D 3 2 0 0 5
SCN2A 2 2 1 0 5
EHMT1 1 2 1 0 4
SYNGAP1 4 0 0 0 4
ADNP 3 0 0 0 3
ARID1B 2 1 0 0 3
GRIN2A 0 0 3 0 3
IQSEC2 2 1 0 0 3
KDM5C 1 2 0 0 3
SETD5 2 1 0 0 3
ARMCX5-GPRASP2, GPRASP1 0 0 2 0 2
ATP1A2 2 0 0 0 2
CHD2 0 2 0 0 2
CNKSR2 0 1 1 0 2
DNMT3A 0 2 0 0 2
FOXP1 0 2 0 0 2
IL1RAPL1 1 0 1 0 2
KANSL1 2 0 0 0 2
KCNB1 1 1 0 0 2
MED12 0 0 2 0 2
MED13L 1 1 0 0 2
NSD1 1 1 0 0 2
POGZ 1 1 0 0 2
RPS6KA3 1 1 0 0 2
SATB2 1 1 0 0 2
SMARCA4 0 2 0 0 2
SNHG14, UBE3A 2 0 0 0 2
TRIO 0 1 1 0 2
TRIP12 1 1 0 0 2
TUBA1A 0 1 1 0 2
ACTB 0 1 0 0 1
ANKRD11 1 0 0 0 1
ASXL3 1 0 0 0 1
BRPF1 1 0 0 0 1
CASK 0 1 0 0 1
CDKL5 0 1 0 0 1
CDKL5, RS1 0 1 0 0 1
CHD4 0 0 1 0 1
CHD7 1 0 0 0 1
CREBBP 0 1 0 0 1
CUX2 0 1 0 0 1
DCX 1 0 0 0 1
DMD 0 0 1 0 1
DYRK1A 1 0 0 0 1
EEF1A2 0 1 0 0 1
FLNA, LOC107988032 0 0 1 0 1
FOXG1 0 1 0 0 1
FOXP2 0 0 1 0 1
GABRA1 1 0 0 0 1
GATAD2B 1 0 0 0 1
GRIN1 0 1 0 0 1
GRIN2B 1 0 0 0 1
HDAC8 0 0 1 0 1
HIVEP2 1 0 0 0 1
HNRNPU 1 0 0 0 1
KAT6A 1 0 0 0 1
KAT6B 1 0 0 0 1
KCNQ2 0 1 0 0 1
KDM6A 0 1 0 0 1
KMT2A 0 1 0 0 1
MEA1, PPP2R5D 1 0 0 0 1
MECP2 1 0 0 0 1
MEF2C 0 1 0 0 1
NEXMIF 1 0 0 0 1
NFIX 1 0 0 0 1
PACS1 1 0 0 0 1
PCDH19 1 0 0 0 1
PDHA1 1 0 0 0 1
PHF21A 0 0 1 0 1
PQBP1 1 0 0 0 1
PTCHD1 0 0 1 0 1
SCN1B 0 0 1 0 1
SCN8A 0 1 0 0 1
SEMA5A 0 0 1 0 1
SETBP1 1 0 0 0 1
SHANK2 0 0 1 0 1
SHANK3 1 0 0 0 1
SLC1A1, SPATA6L 0 0 0 1 1
SLC2A1 1 0 0 0 1
SMC1A 0 0 1 0 1
SMC3 0 1 0 0 1
SMS 0 1 0 0 1
SOX11 0 1 0 0 1
SOX5 0 1 0 0 1
STXBP1 1 0 0 0 1
TCF20 1 0 0 0 1
TCF4 1 0 0 0 1
USP9X 0 1 0 0 1
WDR45 0 1 0 0 1
ZDHHC9 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 89
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Intellectual disability 1 1 5 0 7
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 1 2 1 0 4
Chromosome 9q deletion syndrome 1 2 1 0 4
Kabuki syndrome 1 3 1 0 0 4
Mental retardation, autosomal dominant 5 4 0 0 0 4
Coffin-Siris syndrome 1 2 1 0 0 3
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 3 0 3
Helsmoortel-van der aa syndrome 3 0 0 0 3
Mental retardation, X-linked 1 2 1 0 0 3
Mental retardation, autosomal dominant 23 2 1 0 0 3
Mental retardation, syndromic, Claes-Jensen type, X-linked 1 2 0 0 3
Acute myeloid leukemia; Tatton-Brown-rahman syndrome 0 2 0 0 2
Angelman syndrome 2 0 0 0 2
Chromosome 2q32-q33 deletion syndrome 1 1 0 0 2
Coffin-Lowry syndrome; Mental retardation, X-linked 19 1 1 0 0 2
Epileptic encephalopathy, childhood-onset 0 2 0 0 2
Epileptic encephalopathy, early infantile, 26 1 1 0 0 2
KBG syndrome 2 0 0 0 2
Koolen-de Vries syndrome 2 0 0 0 2
Lissencephaly 3 0 1 1 0 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 1 1 0 0 2
Mental retardation 21, X-linked 1 0 1 0 2
Mental retardation with language impairment and with or without autistic features 0 2 0 0 2
Polymicrogyria 2 0 0 0 2
Rhabdoid tumor predisposition syndrome 2; Mental retardation, autosomal dominant 16 0 2 0 0 2
Sotos syndrome 1; Acute myeloid leukemia 1 1 0 0 2
Transposition of the great arteries, dextro-looped 1; Mental retardation and distinctive facial features with or without cardiac defects 1 1 0 0 2
White-sutton syndrome 1 1 0 0 2
X-linked mental retardation with marfanoid habitus syndrome; FG syndrome; Ohdo syndrome, X-linked 0 0 2 0 2
22q13.3 deletion syndrome; Schizophrenia 15 1 0 0 0 1
Autism 17 0 0 1 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 1
Bainbridge-Ropers syndrome 1 0 0 0 1
Baraitser-Winter syndrome 1; Juvenile-onset dystonia 0 1 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 1 0 1
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 0 1 0 0 1
CHARGE association; Kallmann syndrome 5 1 0 0 0 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; Intestinal pseudoobstruction neuronal chronic idiopathic X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia; Frontometaphyseal dysplasia 0 0 1 0 1
Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 1
Cornelia de Lange syndrome 3 0 1 0 0 1
Cornelia de Lange syndrome 5 0 0 1 0 1
Deafness, autosomal recessive 28 0 1 0 0 1
Dicarboxylic aminoaciduria; Schizophrenia 18 0 0 0 1 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 0 1 0 0 1
Early infantile epileptic encephalopathy 11 1 0 0 0 1
Early infantile epileptic encephalopathy 2 0 1 0 0 1
Early infantile epileptic encephalopathy 4 1 0 0 0 1
Early infantile epileptic encephalopathy 9 1 0 0 0 1
Epilepsy, juvenile myoclonic 5; Epileptic encephalopathy, early infantile, 19 1 0 0 0 1
Epileptic encephalopathy, early infantile, 54 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Epileptic encephalopathy, early infantile, 52 0 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 0 1
Kabuki syndrome 2 0 1 0 0 1
Lamb-shaffer syndrome 0 1 0 0 1
Lissencephaly, X-linked 1 0 0 0 1
Marshall-Smith syndrome; Sotos syndrome 2 1 0 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4 0 1 0 0 1
Mental retardation, X-linked 98 1 0 0 0 1
Mental retardation, X-linked 99; Mental retardation, X-linked 99, syndromic, female-restricted 0 1 0 0 1
Mental retardation, X-linked, syndromic, Raymond type 0 1 0 0 1
Mental retardation, autosomal dominant 18 1 0 0 0 1
Mental retardation, autosomal dominant 26 0 1 0 0 1
Mental retardation, autosomal dominant 27 0 1 0 0 1
Mental retardation, autosomal dominant 32 1 0 0 0 1
Mental retardation, autosomal dominant 35 1 0 0 0 1
Mental retardation, autosomal dominant 38; Epileptic encephalopathy, early infantile, 33 0 1 0 0 1
Mental retardation, autosomal dominant 43 1 0 0 0 1
Mental retardation, autosomal dominant 44 0 0 1 0 1
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 1 0 0 0 1
Mental retardation, autosomal dominant 7 1 0 0 0 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 0 1 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 0 1 0 0 1
Nicolaides-Baraitser syndrome 0 1 0 0 1
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
Renpenning syndrome 1 1 0 0 0 1
Rett syndrome, congenital variant 0 1 0 0 1
Rubinstein-Taybi syndrome 1 0 1 0 0 1
Schinzel-Giedion syndrome; Mental retardation, autosomal dominant 29 1 0 0 0 1
Schuurs-hoeijmakers syndrome 1 0 0 0 1
Severe neonatal-onset encephalopathy with microcephaly; MECP2 duplication syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome 1 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 0 1 0 1
Smith-Magenis syndrome 0 1 0 0 1
Speech-language disorder 1 0 0 1 0 1
Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 1 0 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome 0 0 1 0 1

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