ClinVar Miner

Variants from Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris

Location: France  Primary collection method: clinical testing
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Gene type:
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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
59 26 0 0 0 85

Gene and significance breakdown #

Total genes and gene combinations: 60
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Gene or gene combination pathogenic likely pathogenic total
ARF1, LOC126806039 7 2 9
TCF20 4 0 4
ADNP 2 1 3
ANKRD11 2 0 2
ATP1A3 0 2 2
COG5 1 1 2
LARS2 2 0 2
MFSD8 2 0 2
MICU1 2 0 2
PANK2 2 0 2
SCN2A 1 1 2
SEMA6B 0 2 2
SYNGAP1 2 0 2
TCF4 2 0 2
UNC80 2 0 2
ANOS1 0 1 1
AP4S1 0 1 1
ARF1 0 1 1
ARHGEF9 1 0 1
ARID1B 1 0 1
ATRX 1 0 1
CAMTA1 0 1 1
CLMP 1 0 1
DYRK1A 1 0 1
EEF1B2 1 0 1
EFTUD2 1 0 1
FOXP1 1 0 1
FOXP2 0 1 1
GLDN 0 1 1
GNAS 1 0 1
GRIA3 1 0 1
GRIN2B 1 0 1
HNRNPU 1 0 1
HPRT1 1 0 1
IRAK1BP1, PHIP 0 1 1
KCNQ2 0 1 1
KDM5C 1 0 1
KDM6A 1 0 1
KIF1A 1 0 1
LOC102724058, SCN1A 1 0 1
MED13L 1 0 1
MIR3911, STXBP1 0 1 1
MNS1, TEX9 0 1 1
NAA10 1 0 1
NFIX 1 0 1
PAK3 0 1 1
PDE2A 1 0 1
POGZ 1 0 1
PRODH 0 1 1
PTPN4 0 1 1
RAI1 1 0 1
SATB2 1 0 1
SCN8A 1 0 1
SLC6A1 0 1 1
SMS 1 0 1
SOX5 0 1 1
TAF2 0 1 1
VRK1 0 1 1
ZEB2 1 0 1
ZMYND11 1 0 1

Condition and significance breakdown #

Total conditions: 61
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Condition pathogenic likely pathogenic total
Periventricular nodular heterotopia 8 7 3 10
Intellectual disability 0 5 5
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2 0 2
COG5-congenital disorder of glycosylation 1 1 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 2 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2 0 2
Intellectual disability, autosomal dominant 5 2 0 2
KBG syndrome 2 0 2
Neuronal ceroid lipofuscinosis 7 2 0 2
Perrault syndrome 4 2 0 2
Pigmentary pallidal degeneration 2 0 2
Pitt-Hopkins syndrome 2 0 2
Proximal myopathy with extrapyramidal signs 2 0 2
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 1
Autism Spectrum Disorder with Intellectual Disability 0 1 1
Autism; Intellectual disability, mild 1 0 1
Autism; Intellectual disability, mild; Myoclonus 1 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 1
Childhood apraxia of speech 0 1 1
Chromosome 2q32-q33 deletion syndrome 1 0 1
Coffin-Siris syndrome 1 1 0 1
DYRK1A-related intellectual disability syndrome 1 0 1
Developmental and epileptic encephalopathy, 11 1 0 1
Developmental and epileptic encephalopathy, 13 1 0 1
Developmental and epileptic encephalopathy, 27 1 0 1
Developmental and epileptic encephalopathy, 54 1 0 1
Developmental and epileptic encephalopathy, 8 1 0 1
EEG abnormality; Generalized hypotonia; Chorea; Paroxysmal dystonia; Intellectual disability, moderate; Interictal EEG abnormality 1 0 1
Epicanthus; Autistic behavior; Seizure; Abnormal facial shape; Intellectual disability, moderate 0 1 1
Heterotaxy, visceral, 9, autosomal, with male infertility 0 1 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 1 1
Hypotelorism; Intellectual disability; Generalized hypotonia 1 0 1
Intellectual disability, autosomal dominant 30 1 0 1
Intellectual disability, autosomal dominant 9 1 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 1
Intestinal pseudo-obstruction 1 0 1
Kabuki syndrome 2 1 0 1
Lamb-Shaffer syndrome 0 1 1
Lesch-Nyhan syndrome 1 0 1
Lethal congenital contracture syndrome 11 0 1 1
Malan overgrowth syndrome 1 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 1
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 1 1
Mowat-Wilson syndrome 1 0 1
Myoclonic-astatic epilepsy 0 1 1
Non-syndromic intellectual disability 0 1 1
Ogden syndrome 1 0 1
Pectus excavatum; Failure to thrive; Ptosis; Generalized hypotonia; Intellectual disability, moderate 1 0 1
Pontocerebellar hypoplasia type 1A 0 1 1
Proline dehydrogenase deficiency 0 1 1
Pseudopseudohypoparathyroidism 1 0 1
Seizure; Intellectual disability; Moderate global developmental delay 1 0 1
Severe myoclonic epilepsy in infancy 1 0 1
Smith-Magenis syndrome 1 0 1
Spastic paraplegia 52, autosomal recessive 0 1 1
Syndromic X-linked intellectual disability 94 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 1
Syndromic X-linked intellectual disability Snyder type 1 0 1
Syndromic intellectual disability 0 1 1

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