ClinVar Miner

Variants from Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

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
83 181 33 8 5 309

Gene and significance breakdown #

Total genes and gene combinations: 196
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TBR1 1 15 0 0 0 15
STAG1 0 10 0 0 0 10
MSL3 0 8 0 0 0 8
VPS13B 2 6 0 0 0 8
OFD1 2 4 0 0 0 6
BRCA2 3 2 0 0 0 5
ALMS1 4 0 0 0 0 4
MYBPC3 0 0 4 0 0 4
RET 0 0 3 0 1 4
SCN5A 1 1 1 0 1 4
CFTR 3 0 0 0 0 3
DSG2 0 0 2 1 0 3
KCNQ1 1 2 0 0 0 3
KLHL7 0 3 0 0 0 3
MED13L 0 3 0 0 0 3
NFIX 0 3 0 0 0 3
PTPN11 3 0 0 0 0 3
RECQL4 1 2 0 0 0 3
SCN2A 1 2 0 0 0 3
SDHB 0 0 2 0 1 3
ABHD12 0 2 0 0 0 2
AHDC1 0 2 0 0 0 2
ANKRD11 0 2 0 0 0 2
BRAT1 2 0 0 0 0 2
CSNK2A1 1 1 0 0 0 2
DDX3X 0 2 0 0 0 2
DHCR7 0 2 0 0 0 2
DYSF 0 2 0 0 0 2
ERCC2 1 1 0 0 0 2
FLCN 1 0 1 0 0 2
FLNB 0 2 0 0 0 2
IRF6 1 1 0 0 0 2
KAT6A 0 2 0 0 0 2
KCNB1 0 2 0 0 0 2
KCNQ2 2 0 0 0 0 2
LMNA 0 0 2 0 0 2
LOC110121269, SCN5A 0 1 0 0 1 2
MAN2B1 0 2 0 0 0 2
MECP2 1 1 0 0 0 2
MUSK 0 2 0 0 0 2
NR2F1 0 2 0 0 0 2
PAH 1 1 0 0 0 2
PGAP3 2 0 0 0 0 2
PKHD1 0 2 0 0 0 2
PLP1, RAB9B 0 2 0 0 0 2
POGZ 1 1 0 0 0 2
PURA 0 2 0 0 0 2
RPS6KA3 0 1 0 1 0 2
SACS 2 0 0 0 0 2
SGCD 0 0 2 0 0 2
SPG11 0 2 0 0 0 2
SYN1 0 1 0 1 0 2
SYNGAP1 1 1 0 0 0 2
TNNT2 0 0 2 0 0 2
TRIT1 0 2 0 0 0 2
​intergenic 0 1 0 0 0 1
ABCA12, SNHG31 1 0 0 0 0 1
ABCC9 0 1 0 0 0 1
ACE 0 1 0 0 0 1
ACTB 1 0 0 0 0 1
ALDH18A1 0 1 0 0 0 1
ALX3 0 1 0 0 0 1
APC 0 0 1 0 0 1
ARHGAP6, FRMPD4, MSL3 0 1 0 0 0 1
ARHGAP6, MSL3 0 1 0 0 0 1
ARHGEF9 1 0 0 0 0 1
ARID1A 0 1 0 0 0 1
ARX 0 1 0 0 0 1
ASXL1 0 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 1
ATRX 0 0 0 1 0 1
B3GLCT 1 0 0 0 0 1
BAZ2B, CD302, DPP4, FAP, FIGN, GCA, GCG, IFIH1, ITGB6, KCNH7, LY75, LY75-CD302, MARCH7, PLA2R1, PSMD14, RBMS1, SLC4A10, TANC1, TANK, TBR1, WDSUB1 0 1 0 0 0 1
BCL11A 0 1 0 0 0 1
BRCA1 1 0 0 0 0 1
BRPF1 1 0 0 0 0 1
CACNA1S 0 0 1 0 0 1
CAMTA1 0 1 0 0 0 1
CAV3 0 0 1 0 0 1
CDKL5 0 1 0 0 0 1
CFTR, LOC111674472 1 0 0 0 0 1
CFTR, LOC111674475 1 0 0 0 0 1
COL6A1 1 0 0 0 0 1
CREBBP 0 1 0 0 0 1
CUL4B 1 0 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 1
DES 0 0 1 0 0 1
DLL3 0 1 0 0 0 1
DNMT3A 0 1 0 0 0 1
DPH1 0 1 0 0 0 1
DPP4, FAP, GCG, IFIH1, PSMD14, SLC4A10, TANK, TBR1 0 1 0 0 0 1
DSC2 0 0 1 0 0 1
DSP 0 0 1 0 0 1
DUPD1, KAT6B 0 1 0 0 0 1
DYNC1H1 0 1 0 0 0 1
EBF3 1 0 0 0 0 1
EFNB1 0 1 0 0 0 1
ENG 0 0 1 0 0 1
EP300 0 1 0 0 0 1
FGFR2 1 0 0 0 0 1
FIBP 0 1 0 0 0 1
FOXG1 0 1 0 0 0 1
FOXL2 1 0 0 0 0 1
FOXP1 1 0 0 0 0 1
GATAD2B 0 1 0 0 0 1
GCH1 1 0 0 0 0 1
GLMN 0 1 0 0 0 1
GPC3 0 1 0 0 0 1
GPD1L 0 0 0 1 0 1
GRHL3 0 1 0 0 0 1
HCN1 0 1 0 0 0 1
HDAC8 1 0 0 0 0 1
HES7 0 1 0 0 0 1
HEXA 1 0 0 0 0 1
HFE 0 1 0 0 0 1
HIVEP2 1 0 0 0 0 1
HMBS 0 1 0 0 0 1
HNRNPU 1 0 0 0 0 1
IDS, LOC106050102 0 0 0 1 0 1
IQSEC2 1 0 0 0 0 1
KANSL1 1 0 0 0 0 1
KAT6B 0 1 0 0 0 1
KCNE2 0 0 1 0 0 1
KCNH1 1 0 0 0 0 1
KCNT1 0 1 0 0 0 1
KDM5C 0 1 0 0 0 1
KDM6A 0 1 0 0 0 1
KIF1A 1 0 0 0 0 1
KMT2D 1 0 0 0 0 1
LARP7, MIR302CHG 1 0 0 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
MED23 0 1 0 0 0 1
MITF 0 1 0 0 0 1
MLH3 0 0 1 0 0 1
MYH7 0 1 0 0 0 1
MYL2 0 1 0 0 0 1
MYL3 0 0 1 0 0 1
MYLK 0 1 0 0 0 1
MYO15A 0 1 0 0 0 1
NAA10 1 0 0 0 0 1
NCSTN 0 1 0 0 0 1
NEXMIF 1 0 0 0 0 1
NIPBL 0 1 0 0 0 1
NPHS1 1 0 0 0 0 1
NSD1 0 1 0 0 0 1
OTUD6B 0 1 0 0 0 1
OTX2 1 0 0 0 0 1
PACS1 1 0 0 0 0 1
PACS2 0 1 0 0 0 1
PBX1 0 1 0 0 0 1
PCSK9 0 0 1 0 0 1
PHF6 1 0 0 0 0 1
PIK3CA 1 0 0 0 0 1
PKP2 1 0 0 0 0 1
PMS2 0 1 0 0 0 1
POMGNT2 1 0 0 0 0 1
PPM1D 0 1 0 0 0 1
PROS1 0 0 1 0 0 1
PSMD14, TANK, TBR1 0 1 0 0 0 1
PUF60 0 1 0 0 0 1
RAD21 1 0 0 0 0 1
RARB 0 1 0 0 0 1
REEP1 1 0 0 0 0 1
RYR2 0 0 1 0 0 1
SAMD9 0 1 0 0 0 1
SCN1A 0 1 0 0 0 1
SCN3B 0 1 0 0 0 1
SKI 0 1 0 0 0 1
SLC16A2 0 1 0 0 0 1
SLC5A7 0 1 0 0 0 1
SMAD4 1 0 0 0 0 1
SMARCB1 0 1 0 0 0 1
SMARCE1 0 1 0 0 0 1
SNHG14, UBE3A 0 1 0 0 0 1
SNTA1 0 0 0 1 0 1
SOX5 0 1 0 0 0 1
SOX9 0 1 0 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 1 0 0 0 1
SPTBN2 0 1 0 0 0 1
SRCAP 1 0 0 0 0 1
STXBP1 0 1 0 0 0 1
TAF1 0 1 0 0 0 1
TBL1XR1 0 1 0 0 0 1
TFAP2A 0 1 0 0 0 1
TMCO1 1 0 0 0 0 1
TOR1A 0 1 0 0 0 1
TP53 1 0 0 0 0 1
TSC1 0 0 0 0 1 1
TSPAN7 0 0 0 1 0 1
USB1 0 1 0 0 0 1
VCP 1 0 0 0 0 1
VWF 1 0 0 0 0 1
WFS1 1 0 0 0 0 1
ZBTB18 0 1 0 0 0 1
ZEB2 0 1 0 0 0 1
ZSWIM6 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 194
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Intellectual disability 0 12 0 0 0 12
STAG1-related disorder 0 10 0 0 0 10
Autistic behavior; Moderate global developmental delay 0 9 0 0 0 9
Cohen syndrome 2 6 0 0 0 8
Autistic behavior; Severe global developmental delay 0 7 0 0 0 7
Long QT syndrome 3 1 2 1 0 2 6
Oral-facial-digital syndrome 2 4 0 0 0 6
Breast-ovarian cancer, familial 2 3 2 0 0 0 5
Cystic fibrosis 5 0 0 0 0 5
Alstrom syndrome 4 0 0 0 0 4
Left ventricular noncompaction 10 0 0 4 0 0 4
Multiple endocrine neoplasia, type 2b 0 0 3 0 1 4
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 0 2 1 0 3
Early infantile epileptic encephalopathy 11 1 2 0 0 0 3
Long QT syndrome 1 1 2 0 0 0 3
Mental retardation and distinctive facial features with or without cardiac defects 0 3 0 0 0 3
Paragangliomas 4 0 0 2 0 1 3
Rothmund-Thomson syndrome 1 2 0 0 0 3
Ulnar deviation of the wrist 0 3 0 0 0 3
Van der Woude syndrome 1 2 0 0 0 3
Autosomal recessive polycystic kidney disease 0 2 0 0 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 2 0 0 0 2
Cerebrooculofacioskeletal syndrome 2 1 1 0 0 0 2
Deficiency of alpha-mannosidase 0 2 0 0 0 2
Dilated cardiomyopathy 1A 0 0 2 0 0 2
Dilated cardiomyopathy 1L 0 0 2 0 0 2
Early infantile epileptic encephalopathy 7 2 0 0 0 0 2
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 0 1 0 1 0 2
Epileptic encephalopathy, early infantile, 26 0 2 0 0 0 2
Familial hypertrophic cardiomyopathy 10 0 1 1 0 0 2
Hyperphosphatasia with mental retardation syndrome 4 2 0 0 0 0 2
KBG syndrome 0 2 0 0 0 2
Left ventricular noncompaction 6 0 0 2 0 0 2
Limb-girdle muscular dystrophy, type 2B 0 2 0 0 0 2
Mental retardation, X-linked 102 0 2 0 0 0 2
Mental retardation, autosomal dominant 31 0 2 0 0 0 2
Mental retardation, autosomal dominant 32 0 2 0 0 0 2
Mental retardation, autosomal dominant 5 1 1 0 0 0 2
Moderate global developmental delay 0 2 0 0 0 2
Multiple fibrofolliculomas 1 0 1 0 0 2
Noonan syndrome 1 2 0 0 0 0 2
Okur-chung neurodevelopmental syndrome 1 1 0 0 0 2
Pelizaeus-Merzbacher disease 0 2 0 0 0 2
Pena-Shokeir syndrome type I 0 2 0 0 0 2
Phenylketonuria 1 1 0 0 0 2
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 2 0 0 0 2
Rett syndrome 1 1 0 0 0 2
Rigidity and multifocal seizure syndrome, lethal neonatal 2 0 0 0 0 2
Severe global developmental delay 0 2 0 0 0 2
Smith-Lemli-Opitz syndrome 0 2 0 0 0 2
Sotos syndrome 2 0 2 0 0 0 2
Spastic ataxia Charlevoix-Saguenay type 2 0 0 0 0 2
Spastic paraplegia 11, autosomal recessive 0 2 0 0 0 2
Spondylocarpotarsal synostosis syndrome 0 2 0 0 0 2
White-sutton syndrome 1 1 0 0 0 2
Young Simpson syndrome 0 2 0 0 0 2
ATR-X syndrome 0 0 0 1 0 1
Abdominal obesity-metabolic syndrome 3 0 1 0 0 0 1
Acromelic frontonasal dysostosis 1 0 0 0 0 1
Acute intermittent porphyria 0 1 0 0 0 1
Aicardi Goutieres syndrome 1 0 1 0 0 0 1
Alazami syndrome 1 0 0 0 0 1
Allan-Herndon-Dudley syndrome 0 1 0 0 0 1
Angelman syndrome 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 7 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 2 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 4B 1 0 0 0 0 1
Baraitser-Winter syndrome 1 1 0 0 0 0 1
Bethlem myopathy 1 1 0 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus 1 0 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 0 0 1
Branchiooculofacial syndrome 0 1 0 0 0 1
Breast-ovarian cancer, familial 1 1 0 0 0 0 1
Brugada syndrome 2 0 0 0 1 0 1
Brugada syndrome 7 0 1 0 0 0 1
C-like syndrome 0 1 0 0 0 1
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 0 1 0 0 0 1
Camptomelic dysplasia 0 1 0 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 1 0 0 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 0 0 0 1
Coffin-Lowry syndrome 0 1 0 0 0 1
Coffin-Siris syndrome 5 0 1 0 0 0 1
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 1 0 0 0 0 1
Congenital ocular coloboma; Overgrowth; Macrocephalus; Large hands; learning disabilities; facial dysmorphism 0 1 0 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 0 1
Cornelia de Lange syndrome 4 1 0 0 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 1 0 0 0 0 1
Craniofrontonasal dysplasia 0 1 0 0 0 1
Cutis laxa-corneal clouding-oligophrenia syndrome 0 1 0 0 0 1
Deafness, autosomal recessive 3 0 1 0 0 0 1
Developmental delay with short stature, dysmorphic features, and sparse hair 0 1 0 0 0 1
Dilated cardiomyopathy 1I 0 0 1 0 0 1
Dystonia 1 0 1 0 0 0 1
Dystonia 5, Dopa-responsive type 1 0 0 0 0 1
EEG abnormality; Gait disturbance; Abnormal facial shape; Absent speech; Inflexible adherence to routines or rituals; Generalized hypotonia; Cortical dysplasia; Severe global developmental delay; Hypoplastic anterior commissure; Hypoplastic hippocampus 0 1 0 0 0 1
Early infantile epileptic encephalopathy 14 0 1 0 0 0 1
Early infantile epileptic encephalopathy 2 0 1 0 0 0 1
Early infantile epileptic encephalopathy 4 0 1 0 0 0 1
Early infantile epileptic encephalopathy 8 1 0 0 0 0 1
Epileptic encephalopathy 0 1 0 0 0 1
Epileptic encephalopathy, early infantile, 24 0 1 0 0 0 1
Epileptic encephalopathy, early infantile, 54 1 0 0 0 0 1
Familial acne inversa 1 0 1 0 0 0 1
Familial adenomatous polyposis 1 0 0 1 0 0 1
Familial cancer of breast 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 1 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 8 0 0 1 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 0 0 1
Fitzsimmons-Guilbert syndrome 0 1 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 0 1
Frontonasal dysplasia 1 0 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 0 0 1
Glomuvenous malformations 0 1 0 0 0 1
Hemochromatosis type 1 0 1 0 0 0 1
Hereditary nonpolyposis colorectal cancer type 4 0 1 0 0 0 1
Hereditary nonpolyposis colorectal cancer type 7 0 0 1 0 0 1
Hypercholesterolemia, autosomal dominant, 3 0 0 1 0 0 1
Hypertrichotic osteochondrodysplasia 0 1 0 0 0 1
Hypokalemic periodic paralysis 1 0 0 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 0 0 1
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 1 0 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 0 0 0 1
Intellectual developmental disorder with persistence of fetal hemoglobin 0 1 0 0 0 1
Kabuki syndrome 1 1 0 0 0 0 1
Kabuki syndrome 2 0 1 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 1
Lamb-shaffer syndrome 0 1 0 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 0 1
Long QT syndrome 12 0 0 0 1 0 1
Long QT syndrome 6 0 0 1 0 0 1
Long QT syndrome 9 0 0 1 0 0 1
Macrocephalus 0 1 0 0 0 1
Marshall-Smith syndrome 0 1 0 0 0 1
Mental retardation 58, X-linked 0 0 0 1 0 1
Mental retardation with language impairment and with or without autistic features 1 0 0 0 0 1
Mental retardation, X-linked 1 1 0 0 0 0 1
Mental retardation, X-linked 19 0 0 0 1 0 1
Mental retardation, X-linked 98 1 0 0 0 0 1
Mental retardation, X-linked, syndromic 33 0 1 0 0 0 1
Mental retardation, autosomal dominant 13 0 1 0 0 0 1
Mental retardation, autosomal dominant 14 0 1 0 0 0 1
Mental retardation, autosomal dominant 15 0 1 0 0 0 1
Mental retardation, autosomal dominant 18 0 1 0 0 0 1
Mental retardation, autosomal dominant 22 0 1 0 0 0 1
Mental retardation, autosomal dominant 43 1 0 0 0 0 1
Mental retardation, autosomal dominant 9 1 0 0 0 0 1
Mental retardation, autosomal recessive 18 0 1 0 0 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 0 1 0 0 0 1
Mental retardation, with or without seizures, ARX-related, X-linked 0 1 0 0 0 1
Microphthalmia syndromic 5 1 0 0 0 0 1
Microphthalmia, syndromic 12 0 1 0 0 0 1
Mirage syndrome 0 1 0 0 0 1
Mowat-Wilson syndrome 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 1 0 0 0 0 1
Myasthenic syndrome, congenital, 20, presynaptic 0 1 0 0 0 1
Myhre syndrome 1 0 0 0 0 1
N-terminal acetyltransferase deficiency 1 0 0 0 0 1
Opitz G/BBB syndrome 0 1 0 0 0 1
Osler hemorrhagic telangiectasia syndrome 0 0 1 0 0 1
Peters plus syndrome 1 0 0 0 0 1
Pfeiffer syndrome 1 0 0 0 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 0 1
Poikiloderma with neutropenia 0 1 0 0 0 1
Protein S deficiency 0 0 1 0 0 1
Renal dysplasia 0 1 0 0 0 1
Rett syndrome, congenital variant 0 1 0 0 0 1
Rubinstein-Taybi syndrome 1 0 1 0 0 0 1
Rubinstein-Taybi syndrome 2 0 1 0 0 0 1
Schuurs-hoeijmakers syndrome 1 0 0 0 0 1
Seizures; Behavioral abnormality; Aplasia/Hypoplasia of the corpus callosum; Moderate global developmental delay 1 0 0 0 0 1
Shprintzen-Goldberg syndrome 0 1 0 0 0 1
Simpson-Golabi-Behmel syndrome 0 1 0 0 0 1
Sotos syndrome 1 0 1 0 0 0 1
Spastic paraplegia 31, autosomal dominant 1 0 0 0 0 1
Spinocerebellar ataxia 5 0 1 0 0 0 1
Spondylocostal dysostosis 1, autosomal recessive 0 1 0 0 0 1
Spondylocostal dysostosis 4, autosomal recessive 0 1 0 0 0 1
Syndromic X-linked mental retardation, Cabezas type 1 0 0 0 0 1
Tatton-Brown-rahman syndrome 0 1 0 0 0 1
Tay-Sachs disease 1 0 0 0 0 1
Tietz syndrome; Waardenburg syndrome type 2A 0 1 0 0 0 1
Tuberous sclerosis 1 0 0 0 0 1 1
Verheij syndrome 0 1 0 0 0 1
Wolfram-like syndrome, autosomal dominant 1 0 0 0 0 1
Xia-Gibbs syndrome 0 1 0 0 0 1
Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 1 0 0 0 0 1
von Willebrand disease type 2 1 0 0 0 0 1

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