ClinVar Miner

Variants from Service de Génétique Moléculaire, Hôpital Robert Debré

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
86 198 137 111 0 532

Gene and significance breakdown #

Total genes and gene combinations: 165
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
BRAF 1 15 12 5 33
SOS1 0 2 22 7 31
PTPN11 0 9 18 2 29
RIT1 11 4 4 3 22
RAF1 0 5 11 5 21
ASPM 11 5 0 1 17
MAP2K2 0 2 6 7 15
SOS2 2 1 4 7 14
KIF11 3 8 0 0 11
SPRED1 0 0 6 4 10
MAP2K1 1 5 0 3 9
SHOC2 0 2 4 3 9
HRAS, LRRC56 0 0 5 3 8
VPS13B 1 5 0 2 8
ANKRD11 3 4 0 0 7
CLASP1, RNU4ATAC 3 4 0 0 7
DYRK1A 3 4 0 0 7
CDK5RAP2 1 2 0 2 5
CREBBP 0 2 0 3 5
DDX3X 1 3 0 1 5
FOXG1 2 3 0 0 5
NRAS 0 2 1 2 5
PNKP 1 3 1 0 5
WDR62 2 2 0 1 5
WDR81 1 0 0 4 5
CASK 1 3 0 0 4
CEP135 0 2 0 2 4
DYNC1H1 0 0 0 4 4
EFTUD2 0 4 0 0 4
EP300 0 2 0 2 4
FLNA 0 1 1 2 4
GLI3 0 0 0 4 4
KRAS 0 2 1 1 4
MED13L 0 4 0 0 4
PCNT 0 3 0 1 4
PPP1CB 1 2 0 1 4
PTCHD1 0 1 3 0 4
SCN2A 1 3 0 0 4
TUBA1A 2 2 0 0 4
TUBGCP6 0 4 0 0 4
ASNS, CZ1P-ASNS 0 3 0 0 3
CEP152 2 1 0 0 3
DEPDC5 0 0 0 3 3
GPT2 0 2 1 0 3
KMT2A 2 1 0 0 3
LAMA2 0 2 1 0 3
PQBP1 0 2 1 0 3
ADGRG1 0 1 1 0 2
ARCN1 0 0 0 2 2
ARID1B 0 2 0 0 2
BLM 1 1 0 0 2
CEP63 1 1 0 0 2
CLCN4 0 0 2 0 2
CLTC 1 1 0 0 2
CPAP 1 1 0 0 2
DCHS1 0 0 0 2 2
EHHADH 0 0 0 2 2
ERCC6 2 0 0 0 2
EXOSC3 0 0 0 2 2
FIG4 1 1 0 0 2
FOXP1 0 2 0 0 2
GRIN2B 1 1 0 0 2
KANK1 0 0 2 0 2
KAT6A 0 2 0 0 2
KDM5C 0 2 0 0 2
KMT2B 1 1 0 0 2
KMT2D 0 1 1 0 2
KNL1 0 0 0 2 2
LIG4 0 0 0 2 2
MECP2 2 0 0 0 2
MTOR 1 0 0 1 2
MYCN, MYCNOS 0 1 0 1 2
ORC6 0 2 0 0 2
SETD5 0 2 0 0 2
SH3BP2 0 0 1 1 2
SHANK3 0 1 1 0 2
SLC9A6 0 0 2 0 2
SMARCA2 1 1 0 0 2
SRCAP 1 1 0 0 2
SYNE1 0 1 1 0 2
TRAPPC9 0 2 0 0 2
TTN 0 0 2 0 2
A2ML1 0 0 0 1 1
ALG13 1 0 0 0 1
ANKH 0 0 1 0 1
ARHGEF9 0 0 1 0 1
ARID1A 0 1 0 0 1
ASH1L 0 0 1 0 1
ASPM, LOC129932155 0 1 0 0 1
ATR 1 0 0 0 1
ATRX 0 0 1 0 1
AUTS2 0 1 0 0 1
BCL11A 0 1 0 0 1
BRWD3 0 0 1 0 1
CAMK2A 0 1 0 0 1
CAMTA1 0 1 0 0 1
CDH23 0 0 1 0 1
CDK13 1 0 0 0 1
CHD8 0 1 0 0 1
CPAP, RNF17 0 1 0 0 1
CSNK2A1 1 0 0 0 1
CUL4B 0 1 0 0 1
CUL4B, LOC113845788 0 0 0 1 1
DCX 0 0 0 1 1
DLG4 0 1 0 0 1
DNMT3A 0 1 0 0 1
DOCK8 0 0 1 0 1
DOHH 0 1 0 0 1
DONSON 0 0 0 1 1
DYNC1H1, LOC126862060 0 0 0 1 1
ERCC2 1 0 0 0 1
ERCC5 0 1 0 0 1
ERF 0 0 1 0 1
ERMARD 0 0 0 1 1
ESR1, SYNE1 0 0 1 0 1
FBXO11 0 1 0 0 1
GATAD2B 0 1 0 0 1
GNAO1 1 0 0 0 1
HUWE1 0 0 1 0 1
IRAK1BP1, PHIP 0 1 0 0 1
IRF2BPL 0 0 1 0 1
KAT6B 0 0 1 0 1
KCNB1 0 0 1 0 1
KCNQ5 0 1 0 0 1
KDM6A 0 1 0 0 1
KIF5C 0 0 0 1 1
KIF7 0 1 0 0 1
KMT2A, TTC36 1 0 0 0 1
KMT2C 0 1 0 0 1
KMT5B 0 1 0 0 1
L1CAM 0 0 1 0 1
LAMB1 0 0 0 1 1
LOC130055588, SOS2 0 0 1 0 1
LOC130063193, MAP2K2 0 0 1 0 1
MAP2K1, SNAPC5 0 0 0 1 1
MTHFR 0 1 0 0 1
NAA15 0 1 0 0 1
NIPBL 0 0 1 0 1
NR2F1 1 0 0 0 1
NSD1 0 1 0 0 1
NUF2 0 0 1 0 1
OFD1 0 0 1 0 1
PACS1 1 0 0 0 1
PAFAH1B1 0 1 0 0 1
PLK4 1 0 0 0 1
PMM2 1 0 0 0 1
RAI1 0 1 0 0 1
RTTN 1 0 0 0 1
SETBP1 0 1 0 0 1
SIN3A 0 0 1 0 1
SON 1 0 0 0 1
SOX5 0 1 0 0 1
SPRED2 1 0 0 0 1
STXBP1 1 0 0 0 1
TLK2 0 1 0 0 1
TUBB 1 0 0 0 1
TUBB2A 0 1 0 0 1
TUBG1 0 0 0 1 1
UPF3B 0 1 0 0 1
USP7 0 0 1 0 1
USP9X 0 0 1 0 1
WAC 0 1 0 0 1
WDFY3 0 0 0 1 1
ZBTB18 0 1 0 0 1
ZEB2 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 128
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Noonan syndrome 17 38 84 50 189
Rare genetic intellectual disability 8 35 14 0 57
Microcephaly 5, primary, autosomal recessive 11 6 0 1 18
Cardio-facio-cutaneous syndrome 0 12 3 1 16
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 3 8 0 0 11
Cohen syndrome 1 5 0 2 8
DYRK1A-related intellectual disability syndrome 3 4 0 0 7
Osteodysplastic primordial dwarfism, type 1 3 4 0 0 7
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 1 0 0 4 5
Costello syndrome 0 0 4 1 5
FOXG1 disorder 2 3 0 0 5
Intellectual disability, autosomal dominant 13 0 0 0 5 5
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2 2 0 1 5
Microcephaly 3, primary, autosomal recessive 1 2 0 2 5
Microcephaly, seizures, and developmental delay 1 3 1 0 5
Greig cephalopolysyndactyly syndrome 0 0 0 4 4
Mandibulofacial dysostosis-microcephaly syndrome 0 4 0 0 4
Microcephalic osteodysplastic primordial dwarfism type II 0 3 0 1 4
Microcephaly 8, primary, autosomal recessive 0 2 0 2 4
Microcephaly and chorioretinopathy 1 0 4 0 0 4
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 1 3 0 0 4
Syndromic X-linked intellectual disability Najm type 1 3 0 0 4
Autism, susceptibility to, X-linked 4 0 0 3 0 3
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 3 0 0 3
Epilepsy, familial focal, with variable foci 1 0 0 0 3 3
FG syndrome 2 0 1 0 2 3
Fibrous dysplasia of jaw 0 0 1 2 3
Lissencephaly due to TUBA1A mutation 2 1 0 0 3
Microcephaly 6, primary, autosomal recessive 1 2 0 0 3
Microcephaly 9, primary, autosomal recessive 2 1 0 0 3
Neurofibromatosis-Noonan syndrome 0 0 2 1 3
Noonan syndrome with multiple lentigines 0 0 2 1 3
Renpenning syndrome 0 2 1 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 0 0 0 3 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 1 0 2 3
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 2 0 0 2
Bilateral parasagittal parieto-occipital polymicrogyria 1 1 0 0 2
Bloom syndrome 1 1 0 0 2
Christianson syndrome 0 0 2 0 2
Cockayne syndrome type 2 2 0 0 0 2
DNA ligase IV deficiency 0 0 0 2 2
Fanconi renotubular syndrome 3 0 0 0 2 2
Feingold syndrome type 1 0 1 0 1 2
Glutamate pyruvate transaminase 2 deficiency 0 1 1 0 2
Intellectual disability, X-linked 102 0 1 0 1 2
Intellectual disability, autosomal dominant 56 1 1 0 0 2
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 1 1 0 0 2
Intellectual disability, autosomal recessive 13 0 2 0 0 2
KBG syndrome 1 1 0 0 2
Meier-Gorlin syndrome 3 0 2 0 0 2
Merosin deficient congenital muscular dystrophy 0 2 0 0 2
Microcephaly 4, primary, autosomal recessive 0 0 0 2 2
Nicolaides-Baraitser syndrome 1 1 0 0 2
Phelan-McDermid syndrome; Schizophrenia 15 0 1 1 0 2
Pontocerebellar hypoplasia type 1B 0 0 0 2 2
Seckel syndrome 6 1 1 0 0 2
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 0 0 2 2
Van Maldergem syndrome 1 0 0 0 2 2
Wiedemann-Steiner syndrome 2 0 0 0 2
X-linked intellectual disability Cabezas type 0 1 0 1 2
4p partial monosomy syndrome 0 0 1 0 1
Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 1 0 0 1
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 0 0 1 0 1
Bilateral frontoparietal polymicrogyria 0 1 0 0 1
Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive 0 0 1 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 2 1 0 0 0 1
Cerebrooculofacioskeletal syndrome 3 0 1 0 0 1
Chondrocalcinosis 2; Craniometaphyseal dysplasia, autosomal dominant 0 0 1 0 1
Cobblestone lissencephaly without muscular or ocular involvement 0 0 0 1 1
Coffin-Siris syndrome 1 0 1 0 0 1
Combined immunodeficiency due to DOCK8 deficiency 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 2 0 0 0 1 1
Complex cortical dysplasia with other brain malformations 4 0 0 0 1 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 6 1 0 0 0 1
Complex neurodevelopmental disorder 0 1 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 1
Developmental and epileptic encephalopathy, 8 0 0 1 0 1
Dias-Logan syndrome 0 1 0 0 1
Dystonia 28, childhood-onset 1 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 1 0 1
Hao-Fountain syndrome 0 0 1 0 1
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II 0 0 1 0 1
Intellectual developmental disorder 62 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 1
Intellectual disability, X-linked 49 0 0 1 0 1
Intellectual disability, X-linked 93 0 0 1 0 1
Intellectual disability, X-linked 99; Intellectual disability, X-linked 101 0 0 1 0 1
Intellectual disability, autosomal dominant 14 0 1 0 0 1
Intellectual disability, autosomal dominant 22 0 1 0 0 1
Intellectual disability, autosomal dominant 46 0 1 0 0 1
Intellectual disability, autosomal dominant 50 0 1 0 0 1
Intellectual disability, autosomal dominant 53; Intellectual disability, autosomal recessive 63 0 1 0 0 1
Kabuki syndrome 1 0 0 1 0 1
Kabuki syndrome 2 0 1 0 0 1
Lamb-Shaffer syndrome 0 1 0 0 1
Lissencephaly due to LIS1 mutation 0 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 0 0 1 1
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 0 0 1 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 0 1 1
Metachondromatosis 0 0 1 0 1
Microcephalic primordial dwarfism due to RTTN deficiency 1 0 0 0 1
Microcephaly 18, primary, autosomal dominant 0 0 0 1 1
Microcephaly and chorioretinopathy 2 1 0 0 0 1
Microcephaly, short stature, and limb abnormalities 0 0 0 1 1
Mowat-Wilson syndrome 0 1 0 0 1
Noonan syndrome with multiple lentigines; Noonan syndrome 0 0 1 0 1
Noonan syndrome; Cardio-facio-cutaneous syndrome 0 1 0 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 0 1
PMM2-congenital disorder of glycosylation 1 0 0 0 1
Periventricular nodular heterotopia 6 0 0 0 1 1
Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 0 1 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 1
Seckel syndrome 1 1 0 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 0 1
Severe neonatal-onset encephalopathy with microcephaly 1 0 0 0 1
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 1 0 0 0 1
Sotos syndrome 0 1 0 0 1
Syndromic X-linked intellectual disability 14 0 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 0 1
ZTTK syndrome 1 0 0 0 1

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