ClinVar Miner

Variants from Laboratory of Medical Genetics, University of Torino

Location: Italy  Primary collection method: research
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
88 87 35 0 1 210

Gene and significance breakdown #

Total genes and gene combinations: 154
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
SLC20A2 0 9 0 0 9
HNRNPU 0 7 1 0 8
ARID1B 1 3 0 0 4
EHMT1 4 0 0 0 4
TLK2 3 2 0 0 4
ANKRD11 2 1 0 0 3
KMT2A 1 1 1 0 3
LOC126861980, SMOC1 2 1 0 0 3
NBAS 3 0 0 0 3
PQBP1 2 1 0 0 3
SHANK3 3 0 0 0 3
ADNP 2 0 0 0 2
ATRX 2 0 0 0 2
BRWD3 0 0 2 0 2
CHD7 1 1 0 0 2
FOXP1 1 1 0 0 2
IQSEC2 1 0 1 0 2
IRF2BPL 2 0 0 0 2
KCNT1 0 1 1 0 2
KMT2D 2 0 0 0 2
KRIT1 2 0 0 0 2
LAMA2 0 0 2 0 2
NAA15 2 0 0 0 2
PDCD10 2 0 0 0 2
PDZD4 0 0 2 0 2
PPM1D 1 1 0 0 2
PTEN 1 1 0 0 2
SCN2A 0 2 0 0 2
SETD5 2 0 0 0 2
SMARCA2 0 0 2 0 2
SMARCA4 0 2 0 0 2
SMOC1 1 1 0 0 2
TRRAP 0 1 1 0 2
ZEB2 1 1 0 0 2
ACSL4 0 1 0 0 1
ACTB 1 0 0 0 1
ADSS2, AHCTF1, AKT3, CATSPERE, CEP170, CNST, COX20, DESI2, EFCAB2, EXO1, GCSAML, HNRNPU, KIF26B, LINC02897, LYPD8, MAP1LC3C, NLRP3, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, PGBD2, PLD5, SCCPDH, SDCCAG8, SH3BP5L, SMYD3, SPMIP3, TFB2M, TRIM58, VN1R5, ZBTB18, ZNF124, ZNF496, ZNF669, ZNF670, ZNF672, ZNF692, ZNF695 0 1 0 0 1
ADSS2, C1orf100, CATSPERE, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, SMYD3, TFB2M 0 1 0 0 1
AFF3 0 1 0 0 1
AHDC1 0 1 0 0 1
AKAP9, ANKIB1, CYP51A1, KRIT1, LRRD1 1 0 0 0 1
ARID1A 0 1 0 0 1
ASH1L 1 0 0 0 1
ATP1A3 0 1 0 0 1
ATP7A 0 0 1 0 1
BRAT1 0 1 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 1
C1orf105, PIGC 1 0 0 0 1
CASK 0 1 0 0 1
CCM2 0 1 0 0 1
CCT5 0 1 0 0 1
CDK13 0 1 0 0 1
CDK5RAP2 1 0 0 0 1
CHD8 1 0 0 0 1
CNKSR2 0 1 0 0 1
CNTNAP2 1 0 0 0 1
CREBBP 1 0 0 0 1
DCC 1 0 0 0 1
DDB1 0 0 1 0 1
DDX3X 1 0 0 0 1
DEAF1 0 1 0 0 1
DHDDS 1 0 0 0 1
DLG3 0 0 1 0 1
DLG4 1 0 0 0 1
DLL1 1 0 0 0 1
DNM1 0 1 0 0 1
EP300 0 1 0 0 1
EZH2 0 1 0 0 1
FANCB, GLRA2 0 1 0 0 1
FMR1 0 1 0 0 1
GLA, RPL36A-HNRNPH2 1 0 0 0 1
GLI2 0 1 0 0 1
GRIA3 0 0 1 0 1
GRIN1 0 1 0 0 1
GRIN2B 0 1 0 0 1
H1-4 1 0 0 0 1
H3-3B 1 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 1
HTT 0 0 1 0 1
HUWE1 0 0 1 0 1
HYLS1, PUS3 0 0 1 0 1
IDS 0 1 0 0 1
IRAK1 0 0 1 0 1
KAT6A 1 0 0 0 1
KCNC2 0 1 0 0 1
KCNH1 1 0 0 0 1
KCNK18 1 0 0 0 1
KCNT2 0 1 0 0 1
KDM4B, LOC130063244 1 0 0 0 1
KDM5C 0 1 0 0 1
KDM6A 0 1 0 0 1
KMT2C 0 1 0 0 1
LOC101928335, MID2 0 1 0 0 1
LOC130006099, PACS1 0 1 0 0 1
MAGEL2 0 1 0 0 1
MAGT1 0 0 1 0 1
MECP2 1 0 0 0 1
MED13L 0 1 0 0 1
MEIS2 0 1 0 0 1
MKS1 0 1 0 0 1
MRC2, TLK2 0 1 0 0 1
MTOR 0 0 1 0 1
MYO7A 0 0 1 0 1
MYT1L 0 1 0 0 1
NAA10 1 0 0 0 1
NALCN 1 0 0 0 1
NF1 0 1 0 0 1
NFIX 0 1 0 0 1
NOTCH3 0 0 0 1 1
NOVA2 1 0 0 0 1
OPHN1 0 0 1 0 1
OTUD5 0 0 1 0 1
PACS1 1 0 0 0 1
PAH 1 0 0 0 1
PAK3 0 0 1 0 1
PHF6 1 0 0 0 1
PHF8 0 0 1 0 1
PI4KA 0 1 0 0 1
PIGG 0 0 1 0 1
PIGN 0 0 1 0 1
PIK3CA 1 0 0 0 1
PMPCA 0 0 1 0 1
PRR12 1 0 0 0 1
PSEN1 0 1 0 0 1
PTPN11 1 0 0 0 1
RAB3GAP1 1 0 0 0 1
RAI1 1 0 0 0 1
RBM10 0 1 0 0 1
RPE65 1 0 0 0 1
RPL10 0 0 1 0 1
SCN8A 0 1 0 0 1
SETBP1 0 1 0 0 1
SETD1B 1 0 0 0 1
SLC13A5 1 0 0 0 1
SLC1A2 0 1 0 0 1
SLC6A8 0 1 0 0 1
SMARCB1 0 1 0 0 1
SMC1A 0 1 0 0 1
SON 1 0 0 0 1
SOX11 0 1 0 0 1
SPOP 1 0 0 0 1
SRCAP 0 1 0 0 1
ST3GAL3 1 0 0 0 1
SYNGAP1 1 0 0 0 1
TAF1 0 0 1 0 1
TCF4 1 0 0 0 1
THOC2 0 0 1 0 1
THOC6 0 1 0 0 1
UNC80 0 1 0 0 1
WDR26 1 0 0 0 1
WDR37 1 0 0 0 1
ZBTB18 1 0 0 0 1
ZMYM3 0 0 1 0 1
ZNF292 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 147
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
Idiopathic basal ganglia calcification 1 0 9 0 0 9
Developmental and epileptic encephalopathy, 54 0 7 1 0 8
Cerebral cavernous malformation 5 1 0 1 7
Intellectual disability, autosomal dominant 57 3 3 0 0 5
Microphthalmia with limb anomalies 3 2 0 0 5
Coffin-Siris syndrome 1 1 3 0 0 4
Kleefstra syndrome 1 4 0 0 0 4
Infantile liver failure syndrome 2 3 0 0 0 3
KBG syndrome 2 1 0 0 3
Phelan-McDermid syndrome 3 0 0 0 3
Renpenning syndrome 2 1 0 0 3
Wiedemann-Steiner syndrome 1 1 1 0 3
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2 0 0 0 2
CHARGE association 1 1 0 0 2
Developmental and epileptic encephalopathy, 11 0 2 0 0 2
Developmental and epileptic encephalopathy, 14 0 1 1 0 2
Developmental delay with or without dysmorphic facies and autism 0 1 1 0 2
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 1 0 0 2
Intellectual disability, X-linked 1 1 0 1 0 2
Intellectual disability, X-linked 93 0 0 2 0 2
Intellectual disability, autosomal dominant 16 0 2 0 0 2
Intellectual disability, autosomal dominant 50 2 0 0 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2 0 0 0 2
Intellectual disability-hypotonic facies syndrome, X-linked, 1 2 0 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 1 0 0 2
Kabuki syndrome 1 2 0 0 0 2
Macrocephaly-autism syndrome 1 1 0 0 2
Mowat-Wilson syndrome 1 1 0 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 2 0 2
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2 0 0 0 2
Schuurs-Hoeijmakers syndrome 1 1 0 0 2
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 0 0 1
Alzheimer disease 3 0 1 0 0 1
Autism; Kyphoscoliosis; Abnormal facial shape; Hand tremor; Hypotonia 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 2 0 0 1 0 1
Baraitser-Winter syndrome 1 1 0 0 0 1
Bardet-Biedl syndrome 13 0 1 0 0 1
Blepharophimosis-impaired intellectual development syndrome 0 0 1 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2 1 0 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 1 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 0 0 0 1
Congenital disorder of glycosylation, type ICC 0 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 1 0 0 1
Cortical dysplasia-focal epilepsy syndrome 1 0 0 0 1
Creatine transporter deficiency 0 1 0 0 1
Developmental and epileptic encephalopathy 103 0 1 0 0 1
Developmental and epileptic encephalopathy, 15 1 0 0 0 1
Developmental and epileptic encephalopathy, 25 1 0 0 0 1
Developmental and epileptic encephalopathy, 31 0 1 0 0 1
Developmental and epileptic encephalopathy, 41 0 1 0 0 1
Developmental and epileptic encephalopathy, 57 0 1 0 0 1
Developmental delay and seizures with or without movement abnormalities 1 0 0 0 1
FG syndrome 4 0 1 0 0 1
Fabry disease 1 0 0 0 1
Floating-Harbor syndrome 0 1 0 0 1
Fragile X syndrome 0 1 0 0 1
Gaze palsy, familial horizontal, with progressive scoliosis, 2 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Hyporeflexia; Neonatal hypotonia 0 0 1 0 1
Global developmental delay; Hypospadias; Macrocephaly 1 0 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 16 1 0 0 0 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 1 0 0 1
Hyperactivity; Coarse facial features; Microcephaly; Intellectual disability; Movement disorder 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 0 0 1
Inguinal hernia; High palate; Apneic episodes in infancy; Unilateral ptosis; Cleft palate; Fetal distress 0 0 1 0 1
Intellectual developmental disorder 62 1 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 1
Intellectual developmental disorder with seizures and language delay 1 0 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 65 1 0 0 0 1
Intellectual disability, X-linked 101 0 1 0 0 1
Intellectual disability, X-linked 102 1 0 0 0 1
Intellectual disability, X-linked 30 0 0 1 0 1
Intellectual disability, X-linked 63 0 1 0 0 1
Intellectual disability, X-linked 90 0 0 1 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 1
Intellectual disability, X-linked, syndromic 33 0 0 1 0 1
Intellectual disability, X-linked, syndromic, 35 0 0 1 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 1 0 0 1
Intellectual disability, autosomal dominant 14 0 1 0 0 1
Intellectual disability, autosomal dominant 15 0 1 0 0 1
Intellectual disability, autosomal dominant 22 1 0 0 0 1
Intellectual disability, autosomal dominant 24 0 1 0 0 1
Intellectual disability, autosomal dominant 27 0 1 0 0 1
Intellectual disability, autosomal dominant 29 0 1 0 0 1
Intellectual disability, autosomal dominant 39 0 1 0 0 1
Intellectual disability, autosomal dominant 5 1 0 0 0 1
Intellectual disability, autosomal dominant 52 1 0 0 0 1
Intellectual disability, autosomal dominant 6 0 1 0 0 1
Intellectual disability, autosomal dominant 8 0 1 0 0 1
Intellectual disability, autosomal recessive 53 0 0 1 0 1
KINSSHIP syndrome 0 1 0 0 1
Kabuki syndrome 2 0 1 0 0 1
Kleefstra syndrome 2 0 1 0 0 1
LEOPARD syndrome 1 1 0 0 0 1
Leber congenital amaurosis 2 1 0 0 0 1
Lopes-Maciel-Rodan syndrome 0 0 1 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 0 1
Malan overgrowth syndrome 0 1 0 0 1
Menkes kinky-hair syndrome 0 0 1 0 1
Microcephaly 3, primary, autosomal recessive 1 0 0 0 1
Migraine, with or without aura, susceptibility to, 13 1 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 1 0 1
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 0 1 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 1 0 0 1
Neurodevelopmental disorder with microcephaly and dysmorphic facies 1 0 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 0 0 0 1
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 1 0 0 0 1
Neurofibromatosis, type 1 0 1 0 0 1
Neuroocular syndrome 1 0 0 0 1
Neurooculocardiogenitourinary syndrome 1 0 0 0 1
Nicolaides-Baraitser syndrome 0 0 1 0 1
Ogden syndrome 1 0 0 0 1
Phenylketonuria 1 0 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 1 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 0 0 1
Rahman syndrome 1 0 0 0 1
Rett syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 1 0 0 1
Schaaf-Yang syndrome 0 1 0 0 1
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 0 1 0 1
Severe neurodegenerative syndrome with lipodystrophy 0 1 0 0 1
Skraban-Deardorff syndrome 1 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 1
Syndromic X-linked intellectual disability 94 0 0 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 0 1
Syndromic X-linked intellectual disability Siderius type 0 0 1 0 1
TARP syndrome 0 1 0 0 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 1 0 0 1
Temple-Baraitser syndrome 1 0 0 0 1
Usher syndrome type 1 0 0 1 0 1
Warburg micro syndrome 1 1 0 0 0 1
Weaver syndrome 0 1 0 0 1
White-Kernohan syndrome 0 0 1 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 0 1 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 1
ZTTK syndrome 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.