ClinVar Miner

Variants from Molecular Genetics Lab, CHRU Brest

Location: unspecified  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
93 69 56 3 0 221

Gene and significance breakdown #

Total genes and gene combinations: 170
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
ANKRD11 2 6 0 0 8
MECP2 2 1 1 0 4
SMC1A 1 3 0 0 4
AHDC1 3 0 0 0 3
ASXL3 1 2 0 0 3
HUWE1 1 0 2 0 3
KDM5C 0 2 1 0 3
POGZ 3 0 0 0 3
TCF4 3 0 0 0 3
ACADVL 1 1 0 0 2
CIC 0 0 2 0 2
CLCN4 1 1 0 0 2
DDX3X 1 0 1 0 2
FAT4 0 0 2 0 2
GRIN2B 1 0 1 0 2
HIVEP2 1 0 1 0 2
IGF1R 0 0 2 0 2
IRAK1BP1, PHIP 1 0 1 0 2
KMT2D 2 0 0 0 2
MED13L 0 1 1 0 2
METTL23 1 1 0 0 2
MYT1L 1 1 0 0 2
NR2F1 0 2 0 0 2
PLA2G6 0 2 0 0 2
PTPN11 1 1 0 0 2
PUF60 2 0 0 0 2
SCN1A 2 0 0 0 2
SHANK3 2 0 0 0 2
SNHG14, UBE3A 1 1 0 0 2
STXBP1 1 1 0 0 2
TCF20 2 0 0 0 2
TH 2 0 0 0 2
TUBA1A 1 1 0 0 2
WDPCP 0 0 2 0 2
ZMYND11 1 1 0 0 2
ACTG1 0 1 0 0 1
ACTG2 1 0 0 0 1
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 0 1 0 0 1
ADNP 0 1 0 0 1
ALDH18A1 1 0 0 0 1
ALDH5A1 1 0 0 0 1
ALDH5A1, LOC129995978 0 1 0 0 1
ANK3 0 0 1 0 1
AP2M1 0 0 1 0 1
ARF1, LOC126806039 0 0 1 0 1
ARFGEF1-DT, CPA6 0 0 0 1 1
ARID1A 1 0 0 0 1
ARX, LOC109610631 1 0 0 0 1
ASH1L 0 0 1 0 1
ASXL1 0 1 0 0 1
ATRX 0 0 1 0 1
AUTS2 1 0 0 0 1
BCL11A 1 0 0 0 1
BPTF 0 0 1 0 1
BRPF1 0 1 0 0 1
BTD 1 0 0 0 1
CACNA1A 1 0 0 0 1
CASK 0 1 0 0 1
CDK10 1 0 0 0 1
CFTR 1 0 0 0 1
CHAMP1 0 1 0 0 1
CHD2 0 1 0 0 1
CHD7 0 0 1 0 1
CHD8 0 0 1 0 1
CPA6 0 0 0 1 1
CTNNB1, LOC126806659 1 0 0 0 1
CUL4B, LOC113845788 1 0 0 0 1
DCHS1 0 0 1 0 1
DHTKD1 0 1 0 0 1
DLG3 0 0 1 0 1
DNMT3A 0 1 0 0 1
DPF2 1 0 0 0 1
EBF3 0 1 0 0 1
ECEL1 1 0 0 0 1
EFTUD2 1 0 0 0 1
EHMT1 1 0 0 0 1
EIF2S3 0 1 0 0 1
ERF 1 0 0 0 1
FLT4 0 0 1 0 1
FOXG1 1 0 0 0 1
FOXP1 0 1 0 0 1
FOXP1, LOC126806714 0 0 1 0 1
FOXP2 1 0 0 0 1
FRMPD4 0 0 1 0 1
GFAP 0 1 0 0 1
GNB1 0 1 0 0 1
GRIA3 1 0 0 0 1
GRIN1 1 0 0 0 1
HDAC8 0 1 0 0 1
KAT6A 0 0 1 0 1
KCNB1 1 0 0 0 1
KCNQ2 0 1 0 0 1
KDM1A 0 0 1 0 1
KDM2B 0 0 1 0 1
KDM4B 0 0 1 0 1
KIF1A 1 0 0 0 1
KMT2A 1 0 0 0 1
KMT2C 0 0 1 0 1
L1CAM 0 0 1 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 1
LOC111811965, MIR4733HG, NF1 1 0 0 0 1
LOC126859827, TAB2 0 1 0 0 1
LOC126863256, WDR45 1 0 0 0 1
MAN2B1 0 1 0 0 1
MAN2B1, ZNF564 1 0 0 0 1
MAOA 0 0 1 0 1
MAP1B 1 0 0 0 1
MED12 0 0 1 0 1
MSH6 1 0 0 0 1
MSL3 0 0 1 0 1
MTOR 1 0 0 0 1
MYH7 1 0 0 0 1
NFIX 0 1 0 0 1
NIPBL 1 0 0 0 1
NONO 0 0 1 0 1
NPHP3-ACAD11, UBA5 0 1 0 0 1
NRXN1 0 0 1 0 1
NSD1 1 0 0 0 1
PGK1 0 1 0 0 1
PHKA2 1 0 0 0 1
PPM1D 1 0 0 0 1
PPP3CA 1 0 0 0 1
PQBP1 1 0 0 0 1
PURA 1 0 0 0 1
RNF13 0 1 0 0 1
RORA 1 0 0 0 1
RPL10 0 0 1 0 1
RPS6KA3 0 0 1 0 1
RYR1 1 0 0 0 1
RYR2 0 0 1 0 1
SATB2 0 1 0 0 1
SCN2A 0 1 0 0 1
SCNN1A 1 0 0 0 1
SETBP1 0 0 0 1 1
SETD5 0 1 0 0 1
SHANK2 0 0 1 0 1
SIN3A 0 1 0 0 1
SLC1A4 0 1 0 0 1
SLC6A8 1 0 0 0 1
SMARCC2 0 1 0 0 1
SNAP25 0 1 0 0 1
SOX5 1 0 0 0 1
SOX6 1 0 0 0 1
SPEN 0 0 1 0 1
SPG11 1 0 0 0 1
SPTAN1 0 0 1 0 1
SRCAP 1 0 0 0 1
SUMF1 0 0 1 0 1
SYNGAP1 1 0 0 0 1
SYP 0 1 0 0 1
SYT1 0 1 0 0 1
TANC2 0 1 0 0 1
TBL1XR1 0 0 1 0 1
TBR1 0 0 1 0 1
TGFBR2 0 1 0 0 1
THRA 0 1 0 0 1
TNNI2 0 1 0 0 1
TRIO 0 0 1 0 1
TRIP12 0 0 1 0 1
TRRAP 0 1 0 0 1
TSC2 0 0 1 0 1
TUBB2B 0 1 0 0 1
UPF3B 0 0 1 0 1
VCP 0 1 0 0 1
WAC 1 0 0 0 1
WNK3 0 0 1 0 1
ZBTB18 1 0 0 0 1
ZEB2 1 0 0 0 1
ZMYM3 0 1 0 0 1
ZSWIM6 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 166
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Condition pathogenic likely pathogenic uncertain significance likely benign total
KBG syndrome 2 6 0 0 8
Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 1 3 0 0 4
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 2 1 1 0 4
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 3 0 0 0 3
Intellectual disability, X-linked syndromic, Turner type 1 0 2 0 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 3 0 0 0 3
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 3 0 0 0 3
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 2 0 0 3
Syndromic X-linked intellectual disability Claes-Jensen type 0 2 1 0 3
8q24.3 microdeletion syndrome 2 0 0 0 2
Angelman syndrome 1 1 0 0 2
Autosomal recessive DOPA responsive dystonia 2 0 0 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 2 0 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 1 0 2
Deficiency of alpha-mannosidase 1 1 0 0 2
Developmental and epileptic encephalopathy, 27 1 0 1 0 2
Developmental and epileptic encephalopathy, 4 1 1 0 0 2
Developmental delay with variable intellectual impairment and behavioral abnormalities 2 0 0 0 2
Febrile seizures, familial, 11 0 0 0 2 2
Growth delay due to insulin-like growth factor I resistance 0 0 2 0 2
Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 0 0 2 0 2
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 0 2 0 0 2
Intellectual disability, X-linked 102 1 0 1 0 2
Intellectual disability, X-linked 49 1 1 0 0 2
Intellectual disability, autosomal dominant 30 1 1 0 0 2
Intellectual disability, autosomal dominant 39 1 1 0 0 2
Intellectual disability, autosomal dominant 43 1 0 1 0 2
Intellectual disability, autosomal dominant 45 0 0 2 0 2
Intellectual disability, autosomal recessive 44 1 1 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 1 0 2
Kabuki syndrome 1; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 2 0 0 0 2
Lissencephaly due to TUBA1A mutation 1 1 0 0 2
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 2 0 0 0 2
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 1 1 0 0 2
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 0 1 0 2
Phelan-McDermid syndrome; Schizophrenia 15 2 0 0 0 2
Succinate-semialdehyde dehydrogenase deficiency 1 1 0 0 2
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 2 0 2
Very long chain acyl-CoA dehydrogenase deficiency 1 1 0 0 2
2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease axonal type 2Q 0 1 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 1 0 0 1
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3 1 0 0 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
Acute lymphoid leukemia; Myelodysplastic syndrome; Intellectual disability, autosomal dominant 42 0 1 0 0 1
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome 0 1 0 0 1
Al Kaissi syndrome 1 0 0 0 1
Alexander disease 0 1 0 0 1
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 1 0 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 1
Autism, susceptibility to, 17 0 0 1 0 1
Autism, susceptibility to, 5 0 0 1 0 1
Autism, susceptibility to, X-linked 5; Intellectual disability, X-linked, syndromic, 35 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 0 1 0 0 1
Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 1 0 0 0 1
Basilicata-Akhtar syndrome 0 0 1 0 1
Biotinidase deficiency 1 0 0 0 1
Bohring-Opitz syndrome; Myelodysplastic syndrome 0 1 0 0 1
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 1 0 0 0 1
Brunner syndrome 0 0 1 0 1
CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 1 0 1
Capillary infantile hemangioma; Hereditary lymphedema type I; Congenital heart defects, multiple types, 7 0 0 1 0 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 1 0 0 0 1
Childhood apraxia of speech 1 0 0 0 1
Chitayat syndrome 1 0 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 1 0 0 1
Clark-Baraitser syndrome 0 0 1 0 1
Coffin-Lowry syndrome; Intellectual disability, X-linked 19 0 0 1 0 1
Coffin-Siris syndrome 7 1 0 0 0 1
Coffin-Siris syndrome 8 0 1 0 0 1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 7 0 1 0 0 1
Congenital heart defects, multiple types, 2 0 1 0 0 1
Congenital myasthenic syndrome 18 0 1 0 0 1
Congenital nongoitrous hypothryoidism 6 0 1 0 0 1
Cornelia de Lange syndrome 1 1 0 0 0 1
Cornelia de Lange syndrome 5 0 1 0 0 1
Creatine transporter deficiency 1 0 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 1
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome 1 0 0 0 1
Developmental and epileptic encephalopathy, 26 1 0 0 0 1
Developmental and epileptic encephalopathy, 44; Spinocerebellar ataxia, autosomal recessive 24 0 1 0 0 1
Developmental and epileptic encephalopathy, 5 0 0 1 0 1
Developmental and epileptic encephalopathy, 73 0 1 0 0 1
Dias-Logan syndrome 1 0 0 0 1
Distal arthrogryposis type 2B1 0 1 0 0 1
Distal arthrogryposis type 5D 1 0 0 0 1
Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 1 0 0 0 1
Epileptic encephalopathy, infantile or early childhood, 1; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 1 0 0 0 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 1 0 0 0 1
Familial cancer of breast; Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 1
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 1 0 0 0 1
Glycogen storage disease IXa1 1 0 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 1 0 0 1
Hearing loss, autosomal dominant 75 0 1 0 0 1
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 1 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Charcot-Marie-Tooth disease type 2Y 0 1 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 1 0 0 1
Intellectual developmental disorder 60 with seizures 0 0 1 0 1
Intellectual developmental disorder with autism and macrocephaly 0 0 1 0 1
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 1 0 0 0 1
Intellectual developmental disorder, X-linked 112 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 65 0 0 1 0 1
Intellectual disability, X-linked 104 0 0 1 0 1
Intellectual disability, X-linked 90 0 0 1 0 1
Intellectual disability, X-linked 96 0 1 0 0 1
Intellectual disability, autosomal dominant 14 1 0 0 0 1
Intellectual disability, autosomal dominant 22 1 0 0 0 1
Intellectual disability, autosomal dominant 40 0 1 0 0 1
Intellectual disability, autosomal dominant 5 1 0 0 0 1
Intellectual disability, autosomal dominant 52 0 0 1 0 1
Intellectual disability, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Developmental and epileptic encephalopathy 101 1 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 0 1
Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 0 0 0 1
KDM2B Gene Mutation 0 0 1 0 1
Kleefstra syndrome 1 1 0 0 0 1
Kleefstra syndrome 2 0 0 1 0 1
Lamb-Shaffer syndrome 1 0 0 0 1
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6 0 1 0 0 1
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 0 0 1 0 1
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 0 0 1 0 1
MEHMO syndrome 0 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 1
Marshall-Smith syndrome; Malan overgrowth syndrome 0 1 0 0 1
Medulloblastoma; Pilomatrixoma; Neoplasm of ovary; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 1 0 1
Mowat-Wilson syndrome 1 0 0 0 1
Multiple sulfatase deficiency 0 0 1 0 1
Neurodegeneration with brain iron accumulation 5; Oculocutaneous albinism type 7 1 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 1 0 1
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 1
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 0 1 0 1
Periventricular nodular heterotopia 8 0 0 1 0 1
Periventricular nodular heterotopia 9; Hearing loss, autosomal dominant 83 1 0 0 0 1
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 0 1 0 1
Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 0 0 1 0 1
Prieto syndrome 0 0 1 0 1
Radio-Tartaglia syndrome 0 0 1 0 1
Renpenning syndrome 1 0 0 0 1
Rett syndrome, congenital variant 1 0 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 0 1
Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 0 0 0 1 1
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 0 1 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 1 0 0 1
Sotos syndrome 1 0 0 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 1 0 0 1
Syndromic X-linked intellectual disability 14 0 0 1 0 1
Syndromic X-linked intellectual disability 34 0 0 1 0 1
Syndromic X-linked intellectual disability 94 1 0 0 0 1
Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 1 0 0 1
Tolchin-Le Caignec syndrome 1 0 0 0 1
Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2 0 0 1 0 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 1 0 1
Visceral myopathy 1; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 1 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 1
X-linked intellectual disability Cabezas type 1 0 0 0 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 1

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