ClinVar Miner

Variants from Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

Location: Germany  Primary collection method: clinical testing
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 risk factor total
155 36 3 0 0 1 195

Gene and significance breakdown #

Total genes and gene combinations: 121
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor total
PTPN11 8 0 0 0 8
RIT1 7 0 0 0 7
ARID1B 6 0 0 0 6
KMT2D 6 0 0 0 6
ANKRD11 5 0 0 0 5
ASPM 5 0 0 0 5
BRAF 5 0 0 0 5
SOS1 5 0 0 0 5
CHD7 4 0 0 0 4
PYCR1 4 0 0 0 4
ARID1A 2 1 0 0 3
DDX3X 3 0 0 0 3
EHMT1 2 1 0 0 3
FGFR2 3 0 0 0 3
MECP2 3 0 0 0 3
TRPS1 3 0 0 0 3
ASXL1 2 0 0 0 2
ATRX 2 0 0 0 2
COL2A1 2 0 0 0 2
CREBBP 2 0 0 0 2
DHCR7 2 0 0 0 2
DYRK1A 0 2 0 0 2
EP300 1 1 0 0 2
ERCC4 0 0 2 0 2
FGD1 2 0 0 0 2
HDAC8 2 0 0 0 2
HEXA 1 1 0 0 2
KMT2A 2 0 0 0 2
LAMA1 1 1 0 0 2
NAA15 2 0 0 0 2
PGAP2 2 0 0 0 2
PIGN 2 0 0 0 2
TRRAP 1 1 0 0 2
AGXT 1 0 0 0 1
ALDH18A1 1 0 0 0 1
ASXL3 0 1 0 0 1
ATM 1 0 0 0 1
ATM, C11orf65 1 0 0 0 1
BICRA 0 1 0 0 1
CACNA1A 1 0 0 0 1
CAMK2B 1 0 0 0 1
CBL 1 0 0 0 1
CENPJ 1 0 0 0 1
CHRNE 0 1 0 0 1
CHST3 1 0 0 0 1
CLCN4 0 1 0 0 1
CLTC 1 0 0 0 1
COL11A1 1 0 0 0 1
COL11A2 1 0 0 0 1
CSPP1 0 1 0 0 1
CTNND1, TMX2-CTNND1 0 1 0 0 1
DEPDC5 0 1 0 0 1
DNMT3A 0 1 0 0 1
DVL3 1 0 0 0 1
EFTUD2 1 0 0 0 1
EP300, LOC126863158 1 0 0 0 1
ERCC8 0 1 0 0 1
FBXO11 0 1 0 0 1
FGFR3 1 0 0 0 1
FLNB 1 0 0 0 1
FOXC1 1 0 0 0 1
FOXG1 0 1 0 0 1
FRMPD4 0 0 1 0 1
GATAD2B 1 0 0 0 1
GLI3 1 0 0 0 1
GRIN1 1 0 0 0 1
GRIN2B 1 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 1
HUWE1 0 1 0 0 1
IRAK1BP1, PHIP 0 1 0 0 1
KANSL1 1 0 0 0 1
KAT6B 1 0 0 0 1
KIF7 1 0 0 0 1
KMT5B 0 1 0 0 1
KRAS 1 0 0 0 1
L2HGDH 1 0 0 0 1
LEMD2 0 1 0 0 1
LMNA 1 0 0 0 1
LZTR1 1 0 0 0 1
MAN2B2 0 1 0 0 1
MED13 0 1 0 0 1
NF1 1 0 0 0 1
NIPBL 1 0 0 0 1
NOTCH3 1 0 0 0 1
NSD1 1 0 0 0 1
PAX3 1 0 0 0 1
PIGG 1 0 0 0 1
PIGO 1 0 0 0 1
PIGV 1 0 0 0 1
POLR2A 0 1 0 0 1
PPM1D 0 1 0 0 1
PUF60 0 1 0 0 1
RAF1 1 0 0 0 1
RAI1 1 0 0 0 1
RPS6KA3 1 0 0 0 1
RUNX2 1 0 0 0 1
SCAF4 1 0 0 0 1
SET 1 0 0 0 1
SETD5 1 0 0 0 1
SHANK3 1 0 0 0 1
SLC20A2 0 1 0 0 1
SLC6A8 1 0 0 0 1
SMARCA2 1 0 0 0 1
SMARCA4 0 1 0 0 1
SMARCB1 1 0 0 0 1
SMS 0 1 0 0 1
SNHG14, UBE3A 0 1 0 0 1
SON 1 0 0 0 1
SOX5 1 0 0 0 1
SURF1 1 0 0 0 1
TBK1 0 0 0 1 1
TCF4 1 0 0 0 1
TGFBR2 1 0 0 0 1
TNFRSF13B 0 1 0 0 1
TRIO 0 1 0 0 1
TRIP12 1 0 0 0 1
TRMT1 0 1 0 0 1
TUBA1A 1 0 0 0 1
ZBTB18 0 1 0 0 1
ZBTB24 1 0 0 0 1
ZEB2 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 112
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance risk factor total
Noonan syndrome 1 22 0 0 0 22
Coffin-Siris syndrome 1 7 0 0 0 7
Cardiofaciocutaneous syndrome 1 6 0 0 0 6
Kabuki syndrome 1 6 0 0 0 6
Microcephaly 1, primary, autosomal recessive 6 0 0 0 6
KBG syndrome 5 0 0 0 5
Autosomal recessive cutis laxa type 2B 4 0 0 0 4
CHARGE association 4 0 0 0 4
Cornelia de Lange syndrome 1 3 0 0 0 3
Crouzon syndrome 3 0 0 0 3
Hyperphosphatasia with intellectual disability syndrome 1 3 0 0 0 3
Kleefstra syndrome 1 2 1 0 0 3
Otospondylomegaepiphyseal dysplasia, autosomal dominant 3 0 0 0 3
Rett syndrome 3 0 0 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 3 0 0 0 3
Aarskog syndrome 2 0 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 1 0 0 2
Ataxia-telangiectasia syndrome 2 0 0 0 2
Bohring-Opitz syndrome 2 0 0 0 2
DYRK1A-related intellectual disability syndrome 0 2 0 0 2
Hyperphosphatasia with intellectual disability syndrome 3 2 0 0 0 2
Intellectual disability, X-linked 102 2 0 0 0 2
Intellectual disability, autosomal dominant 14 1 1 0 0 2
Intellectual disability, autosomal dominant 50 2 0 0 0 2
Langer-Giedion syndrome 2 0 0 0 2
Larsen syndrome 2 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 1 2 0 0 0 2
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 2 0 0 2
Severe SARS-CoV-2 infection, susceptibility to 0 1 0 1 2
Smith-Lemli-Opitz syndrome 2 0 0 0 2
Tay-Sachs disease 1 1 0 0 2
Wiedemann-Steiner syndrome 2 0 0 0 2
XFE progeroid syndrome; Fanconi anemia complementation group Q 0 0 2 0 2
Xeroderma pigmentosum, group F 0 0 2 0 2
ALDH18A1-related de Barsy syndrome 1 0 0 0 1
Acrocallosal syndrome 1 0 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 0 0 1
Angelman syndrome 0 1 0 0 1
Autosomal dominant Robinow syndrome 1 1 0 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 1
Blepharocheilodontic syndrome 2 0 1 0 0 1
Clark-Baraitser syndrome 1 0 0 0 1
Cleidocranial dysostosis 1 0 0 0 1
Cockayne syndrome type 1 0 1 0 0 1
Coffin-Lowry syndrome 1 0 0 0 1
Coffin-Siris syndrome 12 0 1 0 0 1
Congenital myasthenic syndrome 4A 0 1 0 0 1
Creatine transporter deficiency 1 0 0 0 1
Developmental delay with or without dysmorphic facies and autism 1 0 0 0 1
Developmental delay with or without dysmorphic facies and autism; TRAPP-associated developmental delay 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 0 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 1
Global developmental delay 1 0 0 0 1
Global developmental delay; Delayed speech and language development; Microcephaly 1 0 0 0 1
Greig cephalopolysyndactyly syndrome 1 0 0 0 1
Idiopathic basal ganglia calcification 1 0 1 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 1 0 0 0 1
Intellectual developmental disorder 61 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 68 0 1 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 1
Intellectual disability, X-linked 49 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 1 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 1
Intellectual disability, autosomal dominant 15 1 0 0 0 1
Intellectual disability, autosomal dominant 16 0 1 0 0 1
Intellectual disability, autosomal dominant 22 0 1 0 0 1
Intellectual disability, autosomal dominant 51 0 1 0 0 1
Intellectual disability, autosomal dominant 54 1 0 0 0 1
Intellectual disability, autosomal dominant 56 1 0 0 0 1
Intellectual disability, autosomal dominant 58 1 0 0 0 1
Intellectual disability, autosomal dominant 6; Atypical behavior; Self-injurious behavior; Sleep abnormality; Microcephaly; Intellectual disability; Hypotonia 1 0 0 0 1
Intellectual disability, autosomal dominant 8 1 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 1
Joubert syndrome 21 0 1 0 0 1
Koolen-de Vries syndrome 1 0 0 0 1
L-2-hydroxyglutaric aciduria 1 0 0 0 1
Lamb-Shaffer syndrome 1 0 0 0 1
Lateral meningocele syndrome 1 0 0 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 0 1
Loeys-Dietz syndrome 1 1 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 1
Marshall syndrome 1 0 0 0 1
Menke-Hennekam syndrome 2 0 1 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 1
Migraine, familial hemiplegic, 1 1 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 1 1 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 1
Muenke syndrome 1 0 0 0 1
Neurofibromatosis, type 1 1 0 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 1
Noonan syndrome 10 1 0 0 0 1
Ocular albinism with congenital sensorineural hearing loss 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 1
Phelan-McDermid syndrome 1 0 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 1
Rett syndrome, congenital variant 0 1 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 0 1
SCAF4-associated mental retardation 1 0 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 1
Sotos syndrome 1 0 0 0 1
Syndromic X-linked intellectual disability Snyder type 0 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 0 1 0 0 1
Teeth, supernumerary; Short stature; Micrognathia; Dental crowding; Growth delay; Proptosis; Short clavicles; Triangular face; Narrow mouth; Microcephaly; Thin skin; Prominent superficial veins; Intention tremor; Reduced bone mineral density; Deviated nasal septum; Progeroid facial appearance; Multiple unerupted teeth; Abnormal nasal dorsum morphology; Lipoatrophy 0 1 0 0 1
Trichorhinophalangeal dysplasia type I 1 0 0 0 1
ZTTK syndrome 1 0 0 0 1
not provided 0 1 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.