ClinVar Miner

Variants from Center of Genomic medicine, Geneva,University Hospital of Geneva

Location: Switzerland — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
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 risk factor total
186 63 58 0 0 2 309

Gene and significance breakdown #

Total genes and gene combinations: 200
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor total
MYBPC3 12 1 0 0 13
NF1 9 1 1 0 11
PTPN11 7 1 0 0 8
ATM, C11orf65 2 2 1 0 5
CACNA1A 2 2 1 0 5
COL4A5 3 1 0 0 4
FBN1 2 2 0 0 4
KCNQ2 3 1 0 0 4
KMT2D 4 0 0 0 4
TSC2 4 0 0 0 4
CDKL5 3 0 0 0 3
COL4A3, LOC654841 0 2 1 0 3
DYRK1A 2 0 1 0 3
RYR1 1 2 0 0 3
SLC12A3 3 0 0 0 3
SLC2A1 3 0 0 0 3
TNNT2 1 0 2 0 3
TYR 3 0 0 0 3
ACVRL1 2 0 0 0 2
ANKRD11 2 0 0 0 2
ASPM 1 1 0 0 2
CDH23 0 2 0 0 2
CHD7 2 0 0 0 2
CHRNA2 0 0 2 0 2
CREBBP 2 0 0 0 2
CUL4B 1 1 0 0 2
DHCR7 2 0 0 0 2
DYNC2H1 1 1 0 0 2
ECHS1 1 1 0 0 2
ENG, LOC102723566 1 1 0 0 2
FGFR1 2 0 0 0 2
GBE1 2 0 0 0 2
GLI3 0 0 2 0 2
GRIN2A 0 0 2 0 2
GRN 2 0 0 0 2
IQSEC2 1 0 1 0 2
KCNJ11 1 1 0 0 2
LIG4 0 2 0 0 2
LOC102724058, SCN1A 2 0 0 0 2
NEXMIF 2 0 0 0 2
NIPBL 2 0 0 0 2
PKHD1 2 0 0 0 2
RPGRIP1 2 0 0 0 2
SERPINI1 2 0 0 0 2
SMC1A 0 2 0 0 2
SPAST 1 1 0 0 2
SPG7 2 0 0 0 2
STXBP1 1 1 0 0 2
SYNGAP1 1 1 0 0 2
TBC1D24 0 0 2 0 2
TCF4 1 1 0 0 2
TJP2 1 1 0 0 2
TTN 2 0 0 0 2
VCL 0 0 2 0 2
VCP 1 0 1 0 2
VPS13B 2 0 0 0 2
WASHC5 1 1 0 0 2
WFS1 0 0 2 0 2
WNT1 0 0 2 0 2
ABCA4 1 0 0 0 1
ABCC9 0 0 1 0 1
ADNP 1 0 0 0 1
AGRN 0 0 1 0 1
AK8, SPACA9, TSC1 1 0 0 0 1
ALDH1A3, LOC101927751 0 1 0 0 1
ALPL 1 0 0 0 1
ANK2 0 0 1 0 1
AP1S2 1 0 0 0 1
APOE 0 1 0 0 1
ARID1B 1 0 0 0 1
ASXL1 0 0 1 0 1
ASXL3 1 0 0 0 1
ATM 0 1 0 0 1
ATRX 1 0 0 0 1
BAP1 1 0 0 0 1
BRF1 0 0 1 0 1
CAMTA1 0 0 1 0 1
CASD1, SGCE 1 0 0 0 1
CASK 1 0 0 0 1
CCNH, RASA1 1 0 0 0 1
CDK13 1 0 0 0 1
CDKN2A 1 0 0 0 1
CEP135 1 0 0 0 1
CFHR5 1 0 0 0 1
CFTR 0 0 1 0 1
CFTR, LOC111674472 0 0 1 0 1
CHD8 1 0 0 0 1
CHEK2 0 1 0 0 1
CHRNB2 0 0 1 0 1
CLCN5 0 0 1 0 1
COL2A1 1 0 0 0 1
COL4A1 0 1 0 0 1
COL4A4 1 0 0 0 1
COL5A1 1 0 0 0 1
COL6A3 0 0 1 0 1
COL9A3 0 0 1 0 1
CPA6, LOC102724708 0 0 1 0 1
CTNNB1 1 0 0 0 1
CTSD 0 1 0 0 1
CYBB 1 0 0 0 1
CYP2U1 1 0 0 0 1
CYP2U1, LOC101929595 0 1 0 0 1
DES 0 1 0 0 1
DNAAF3 1 0 0 0 1
DNAH5 1 0 0 0 1
DSG2 0 0 1 0 1
DSP 0 1 0 0 1
DUPD1, KAT6B 1 0 0 0 1
EP300 1 0 0 0 1
EXT1 1 0 0 0 1
EYA1 0 0 1 0 1
FAN1 1 0 0 0 1
FAN1, MTMR10 1 0 0 0 1
FGA 0 0 1 0 1
FLNB 0 0 1 0 1
FOXP1 1 0 0 0 1
GABRA1 0 1 0 0 1
GFI1B 1 0 0 0 1
GLDN 1 0 0 0 1
GLUD1 1 0 0 0 1
GP1BA 1 0 0 0 1
GRIN1 1 0 0 0 1
GRIN2B 0 1 0 0 1
HTRA1 0 0 1 0 1
JAG1 1 0 0 0 1
JUP 0 0 1 0 1
KARS1 1 0 0 0 1
KCNH2 1 0 0 0 1
KDM5C 1 0 0 0 1
KDM6A 0 1 0 0 1
KIRREL3 0 1 0 0 1
KMT2A 0 0 1 0 1
L1CAM 1 0 0 0 1
LAMB3 1 0 0 0 1
LARGE1 1 0 0 0 1
LDB3 0 0 1 0 1
LMNA 1 0 0 0 1
LOC102723833, USH2A 1 0 0 0 1
LOC106029312, NCF1 1 0 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 1 1
LOXHD1 1 0 0 0 1
LRSAM1 0 1 0 0 1
MECP2 1 0 0 0 1
MED13L 1 0 0 0 1
MEN1 0 0 1 0 1
MFN2 0 1 0 0 1
MYH6 0 0 1 0 1
MYH7 1 0 0 0 1
MYL2 0 0 1 0 1
MYL3 0 0 1 0 1
MYO6 0 0 1 0 1
MYO7A 1 0 0 0 1
MYO9A 0 0 1 0 1
MYPN 0 1 0 0 1
NKX2-1, SFTA3 1 0 0 0 1
NLRP3 1 0 0 0 1
NR3C2 0 1 0 0 1
OPA1 1 0 0 0 1
PAFAH1B1 1 0 0 0 1
PAX6 1 0 0 0 1
PCNT 1 0 0 0 1
PDHA1 1 0 0 0 1
PGK1 0 0 1 0 1
PHEX 0 0 1 0 1
PHEX, PTCHD1 0 1 0 0 1
PIGA 0 1 0 0 1
PIK3CD 1 0 0 0 1
PKD2 1 0 0 0 1
PLP1, RAB9B 1 0 0 0 1
PTCH1 0 0 1 0 1
RYR2 1 0 0 0 1
SACS 0 1 0 0 1
SCN1A, SCN9A 1 0 0 0 1
SCN2A 1 0 0 0 1
SCN4B 0 0 1 0 1
SCN8A 0 1 0 0 1
SEMA3D 0 0 1 0 1
SETBP1 1 0 0 0 1
SHANK2 0 0 1 0 1
SHANK3 1 0 0 0 1
SKI 0 1 0 0 1
SLC7A9 1 0 0 0 1
SOS1 1 0 0 0 1
SPATA5 0 0 1 0 1
SPTBN2 0 1 0 0 1
STAT3 0 1 0 0 1
STRC 0 1 0 0 1
TMEM127 1 0 0 0 1
TMPRSS6 1 0 0 0 1
TNFRSF13B 0 0 0 1 1
TNFRSF1A 0 0 1 0 1
TPM1 0 1 0 0 1
TPM2 1 0 0 0 1
TPM3 0 1 0 0 1
TTC19 0 1 0 0 1
UMOD 0 1 0 0 1
USH2A 1 0 0 0 1
WDR45 1 0 0 0 1
ZBTB18 1 0 0 0 1
ZBTB20 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 211
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Condition pathogenic likely pathogenic uncertain significance risk factor total
Familial hypertrophic cardiomyopathy 4 12 1 0 0 13
Neurofibromatosis, type 1 8 1 1 0 10
Noonan syndrome 1 5 1 0 0 6
Ataxia-telangiectasia syndrome 2 3 0 0 5
Alport syndrome 1, X-linked recessive 3 1 0 0 4
Kabuki syndrome 1 4 0 0 0 4
Marfan syndrome 2 2 0 0 4
Primary dilated cardiomyopathy 0 1 3 0 4
Tuberous sclerosis 2 4 0 0 0 4
Early infantile epileptic encephalopathy 7 3 0 0 0 3
Familial hemiplegic migraine type 1 2 1 0 0 3
Familial hypokalemia-hypomagnesemia 3 0 0 0 3
Intellectual disability 0 0 3 0 3
Tyrosinase-negative oculocutaneous albinism 3 0 0 0 3
Alport syndrome, autosomal recessive 0 2 0 0 2
Arthrogryposis multiplex congenita 1 1 0 0 2
Autistic behavior 0 0 2 0 2
Autosomal recessive polycystic kidney disease 2 0 0 0 2
CHARGE association 2 0 0 0 2
Cohen syndrome 2 0 0 0 2
Congenital muscular hypertrophy-cerebral syndrome 0 2 0 0 2
Deafness, autosomal recessive 12 0 2 0 0 2
Deafness, autosomal recessive 86 0 0 2 0 2
Dilated cardiomyopathy 1G 2 0 0 0 2
Early infantile epileptic encephalopathy 2 2 0 0 0 2
Early infantile epileptic encephalopathy 4 1 1 0 0 2
Encephalopathy, familial, with neuroserpin inclusion bodies 2 0 0 0 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 1 0 2
Familial cancer of breast 0 1 1 0 2
Familial isolated dilated cardiomyopathy 1 0 1 0 2
Frontotemporal dementia, ubiquitin-positive 2 0 0 0 2
Hereditary hemorrhagic telangiectasia type 2 2 0 0 0 2
Hereditary pancreatitis 0 0 2 0 2
Hirschsprung disease 0 0 1 1 2
Hypertrophic cardiomyopathy 2 0 0 0 2
Interstitial nephritis, karyomegalic 2 0 0 0 2
Islet cell hyperplasia 1 1 0 0 2
KBG syndrome 2 0 0 0 2
Leber congenital amaurosis 2 0 0 0 2
Left ventricular noncompaction 6 0 0 2 0 2
Lig4 syndrome 0 2 0 0 2
Mental retardation, autosomal dominant 5 1 1 0 0 2
Mental retardation, autosomal dominant 7 2 0 0 0 2
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 1 1 0 0 2
Osler hemorrhagic telangiectasia syndrome 1 1 0 0 2
Osteogenesis imperfecta 0 0 2 0 2
Pitt-Hopkins syndrome 1 1 0 0 2
Polyglucosan body disease, adult 2 0 0 0 2
Primary autosomal recessive microcephaly 5 1 1 0 0 2
Primary ciliary dyskinesia 2 0 0 0 2
Progressive familial intrahepatic cholestasis 4 1 1 0 0 2
Rubinstein-Taybi syndrome 1 2 0 0 0 2
Short-rib thoracic dysplasia 3 with or without polydactyly 1 1 0 0 2
Smith-Lemli-Opitz syndrome 2 0 0 0 2
Spastic paraplegia 4, autosomal dominant 1 1 0 0 2
Spastic paraplegia 56, autosomal recessive 1 1 0 0 2
Spastic paraplegia 7 2 0 0 0 2
Spastic paraplegia 8 1 1 0 0 2
Syndromic X-linked mental retardation, Cabezas type 1 1 0 0 2
Usher syndrome, type 2A 2 0 0 0 2
AFib amyloidosis 0 0 1 0 1
ATR-X syndrome 1 0 0 0 1
Abnormality of lipid metabolism 0 1 0 0 1
Adult hypophosphatasia 1 0 0 0 1
Adult junctional epidermolysis bullosa 1 0 0 0 1
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 0 0 1 0 1
Amyotrophic lateral sclerosis; Cerebellar ataxia; Chorea 0 0 1 0 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 0 1 0 0 1
Aniridia 1 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 1
Arteriohepatic dysplasia 1 0 0 0 1
Autism, susceptibility to, 18 1 0 0 0 1
Autistic behavior; Abnormal facial shape; Clinodactyly of the 5th finger; Moderate global developmental delay; Clinodactyly of the 4th toe 0 1 0 0 1
Autosomal recessive non-syndromic sensorineural deafness type DFNB 1 0 0 0 1
Bainbridge-Ropers syndrome 1 0 0 0 1
Behavioral abnormality; Bilateral ptosis; Neurodevelopmental delay 0 0 1 0 1
Benign familial hematuria 1 0 0 0 1
Benign familial neonatal seizures 1 0 1 0 0 1
Benign hereditary chorea 1 0 0 0 1
Bernard Soulier syndrome 1 0 0 0 1
Bilateral sensorineural hearing impairment 0 0 1 0 1
CFHR5 deficiency 1 0 0 0 1
Capillary malformation-arteriovenous malformation 1 0 0 0 1
Cardiac arrhythmia, ankyrin B-related 0 0 1 0 1
Cardiomyopathy 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 1 0 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 1 0 1
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 0 0 1 0 1
Ceroid lipofuscinosis neuronal 10 0 1 0 0 1
Charcot-Marie-Tooth disease type 2P 0 1 0 0 1
Chronic granulomatous disease, X-linked 1 0 0 0 1
Ciliary dyskinesia, primary, 2 1 0 0 0 1
Common variable immunodeficiency 2 0 0 0 1 1
Congenital contracture 0 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 0 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 1 0 0 0 1
Congenital myopathy with fiber type disproportion 0 1 0 0 1
Continuous spike and waves during slow-wave sleep syndrome 1 0 0 0 1
Cornelia de Lange syndrome 1 1 0 0 0 1
Cronkhite-Canada syndrome 0 0 1 0 1
Cystinuria 1 0 0 0 1
De Lange syndrome 1 0 0 0 1
Deafness, autosomal dominant 22 0 0 1 0 1
Deafness, autosomal recessive 16 0 1 0 0 1
Deafness, autosomal recessive 2 1 0 0 0 1
Dilated cardiomyopathy 1A 1 0 0 0 1
Dilated cardiomyopathy 1C 0 0 1 0 1
Dilated cardiomyopathy 1KK 0 1 0 0 1
Disproportionate tall stature 0 1 0 0 1
Dominant hereditary optic atrophy 1 0 0 0 1
Early infantile epileptic encephalopathy 1 0 0 0 1
Effort-induced polymorphic ventricular tachycardias 0 1 0 0 1
Ehlers-Danlos syndrome, classic type 1 0 0 0 1
Epilepsy 0 1 0 0 1
Epilepsy, familial temporal lobe, 5 0 0 1 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 1 0 1
Epilepsy, hearing loss, and mental retardation syndrome 0 0 1 0 1
Epilepsy, nocturnal frontal lobe, type 4 0 0 1 0 1
Epileptic encephalopathy, early infantile, 19 0 1 0 0 1
Epileptic encephalopathy, early infantile, 27 0 1 0 0 1
Episodic ataxia type 2 0 1 0 0 1
Episodic ataxia; Seizures; Vertigo 1 0 0 0 1
Familial amyloid nephropathy with urticaria AND deafness 1 0 0 0 1
Familial hypertrophic cardiomyopathy 1 1 0 0 0 1
Familial hypertrophic cardiomyopathy 15 0 0 1 0 1
Familial hypertrophic cardiomyopathy 8 0 0 1 0 1
Familial isolated hyperparathyroidism 0 0 1 0 1
Familial juvenile gout 0 1 0 0 1
GLUT1 deficiency syndrome 1 1 0 0 0 1
GLUT1 deficiency syndrome 2 1 0 0 0 1
Global developmental delay; Infantile muscular hypotonia 0 0 1 0 1
Global developmental delay; Macrocephalus; Functional motor deficit; Generalized dystonia 0 0 1 0 1
Glucose transporter type 1 deficiency syndrome 1 0 0 0 1
Gorlin syndrome 0 0 1 0 1
Hartsfield syndrome 1 0 0 0 1
Helsmoortel-Van der Aa Syndrome 1 0 0 0 1
Hematuria; Glomerulopathy 0 0 1 0 1
Hereditary motor and sensory neuropathy with optic atrophy 0 1 0 0 1
Hyperimmunoglobulin E syndrome 0 1 0 0 1
Hyperinsulinism-hyperammonemia syndrome 1 0 0 0 1
Hypophosphatemic rickets, X-linked recessive 0 0 1 0 1
Immunodeficiency 14 1 0 0 0 1
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 0 0 0 1
Intellectual disability syndrome due to a DYRK1A point mutation 0 0 1 0 1
Isolated anophthalmia-microphthalmia syndrome 0 1 0 0 1
Kabuki syndrome 2 0 1 0 0 1
Kallmann syndrome 2 1 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 1
Lethal congenital contracture syndrome 11 1 0 0 0 1
Lissencephaly 1 1 0 0 0 1
Long QT syndrome 2 1 0 0 0 1
Melanoma-pancreatic cancer syndrome 1 0 0 0 1
Mental retardation and distinctive facial features with or without cardiac defects 1 0 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 1 0 0 0 1
Mental retardation with language impairment and with or without autistic features 1 0 0 0 1
Mental retardation, X-linked 1 1 0 0 0 1
Mental retardation, X-linked 98 1 0 0 0 1
Mental retardation, autosomal dominant 19 1 0 0 0 1
Mental retardation, autosomal dominant 22 1 0 0 0 1
Mental retardation, autosomal dominant 29 1 0 0 0 1
Mental retardation, autosomal dominant 4 0 1 0 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 1 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type 2 1 0 0 0 1
Microcytic anemia 1 0 0 0 1
Mitochondrial complex III deficiency, nuclear type 2 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 0 1
Multiple congenital exostosis 1 0 0 0 1
Myasthenic syndrome, congenital, 8 0 0 1 0 1
Myoclonic dystonia 1 0 0 0 1
Myofibrillar myopathy 1 0 1 0 0 1
Myopathy, Central Core 0 1 0 0 1
Nemaline myopathy 4 1 0 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 0 0 0 1
Neurofibromatosis-Noonan syndrome 1 0 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 1
Nonsyndromic hearing loss and deafness 1 0 0 0 1
Noonan syndrome 1 0 0 0 1
Noonan syndrome 4 1 0 0 0 1
Paroxysmal extreme pain disorder 1 0 0 0 1
Pelizaeus-Merzbacher disease 1 0 0 0 1
Pettigrew syndrome 1 0 0 0 1
Pheochromocytoma 1 0 0 0 1
Polycystic kidney disease 2 1 0 0 0 1
Presynaptic congenital myasthenic syndromes 0 0 1 0 1
Primary autosomal recessive microcephaly 8 1 0 0 0 1
Profound global developmental delay; Epileptic encephalopathy 0 0 1 0 1
Prolonged QT interval 0 0 1 0 1
Pseudohypoaldosteronism type 1 autosomal dominant 0 1 0 0 1
Psychosis; Mutism; Moderate global developmental delay 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
Renal hypoplasia 0 0 1 0 1
Rett syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome 2 1 0 0 0 1
Seizures 1 0 0 0 1
Seizures; Deeply set eye; Microcephaly 0 0 1 0 1
Seizures; Hypertonia; Delayed speech and language development; Moderate global developmental delay 0 0 1 0 1
Seizures; Intellectual disability 0 0 1 0 1
Severe myoclonic epilepsy in infancy 1 0 0 0 1
Severe postnatal growth retardation; Synostosis involving bones of the lower limbs 0 0 1 0 1
Spastic ataxia Charlevoix-Saguenay type 0 1 0 0 1
Specific learning disability 0 0 1 0 1
Spinocerebellar ataxia 5 0 1 0 0 1
Spondyloepiphyseal dysplasia 1 0 0 0 1
Stargardt disease 1 1 0 0 0 1
Storage pool disease of platelets 1 0 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 0 0 1 0 1
Tuberous sclerosis 1 1 0 0 0 1
Tumor susceptibility linked to germline BAP1 mutations 1 0 0 0 1
X-linked hydrocephalus syndrome 1 0 0 0 1
Young Simpson syndrome 1 0 0 0 1

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