ClinVar Miner

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

Location: France — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
48 14 0 0 0 62

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic total
TCF20 3 0 3
ADNP 2 0 2
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
SYNGAP1 2 0 2
TCF4 2 0 2
UNC80 2 0 2
ANOS1 0 1 1
AP4S1 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
EFTUD2 1 0 1
FOXP1 1 0 1
FOXP2 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
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
NAA10 1 0 1
NFIX 1 0 1
PAK3 0 1 1
POGZ 1 0 1
PRODH 0 1 1
RAI1 1 0 1
SATB2 1 0 1
SCN8A 1 0 1
SLC6A1 0 1 1
SOX5 0 1 1
ZEB2 1 0 1
ZMYND11 1 0 1

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic total
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 0 2 2
Ceroid lipofuscinosis neuronal 7 2 0 2
Congenital disorder of glycosylation type 2i 1 1 2
Helsmoortel-van der aa syndrome 2 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2 0 2
KBG syndrome 2 0 2
Mental retardation, autosomal dominant 5 2 0 2
Myopathy with extrapyramidal signs 2 0 2
Perrault syndrome 4 2 0 2
Pigmentary pallidal degeneration 2 0 2
Pitt-Hopkins syndrome 2 0 2
ATR-X syndrome 1 0 1
Autism Spectrum Disorder with Intellectual Disability 0 1 1
Autistic disorder of childhood onset; Intellectual disability, mild 1 0 1
Autistic disorder of childhood onset; Intellectual disability, mild; Myoclonus 1 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 1 1
Chromosome 2q32-q33 deletion syndrome 1 0 1
Coffin-Siris syndrome 1 1 0 1
Early infantile epileptic encephalopathy 11 1 0 1
Early infantile epileptic encephalopathy 13 1 0 1
Early infantile epileptic encephalopathy 8 1 0 1
Epileptic encephalopathy, early infantile, 27 1 0 1
Epileptic encephalopathy, early infantile, 54 1 0 1
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 1 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 0 1 1
Intellectual disability 0 1 1
Intellectual disability, non syndromic 0 1 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
Mental retardation and distinctive facial features with or without cardiac defects 1 0 1
Mental retardation with language impairment and with or without autistic features 1 0 1
Mental retardation, X-linked, syndromic, wu type 1 0 1
Mental retardation, autosomal dominant 30 1 0 1
Mental retardation, autosomal dominant 7 1 0 1
Mental retardation, autosomal dominant 9 1 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 1 0 1
Mowat-Wilson syndrome 1 0 1
Myoclonic-atonic epilepsy 0 1 1
N-terminal acetyltransferase deficiency 1 0 1
Pectus excavatum; Failure to thrive; Ptosis; Generalized hypotonia; Intellectual disability, moderate 1 0 1
Proline dehydrogenase deficiency 0 1 1
Pseudopseudohypoparathyroidism 1 0 1
Severe myoclonic epilepsy in infancy 1 0 1
Smith-Magenis syndrome 1 0 1
Sotos syndrome 2 1 0 1
Spastic paraplegia 52, autosomal recessive 0 1 1
Speech-language disorder 1 0 1 1
Syndromic intellectual disability 0 1 1
White-sutton syndrome 1 0 1

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