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 total
128 13 0 0 0 141

Gene and significance breakdown #

Total genes and gene combinations: 72
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Gene or gene combination pathogenic likely pathogenic total
PTPN11 8 0 8
RIT1 7 0 7
ARID1B 6 0 6
KMT2D 6 0 6
ANKRD11 5 0 5
ASPM 5 0 5
BRAF 5 0 5
SOS1 5 0 5
CHD7 4 0 4
PYCR1 4 0 4
DDX3X 3 0 3
EP300 2 1 3
FGFR2 3 0 3
MECP2 3 0 3
TRPS1 3 0 3
ARID1A 1 1 2
ASXL1 2 0 2
ATRX 2 0 2
COL2A1 2 0 2
CREBBP 2 0 2
DHCR7 2 0 2
DYRK1A 0 2 2
EHMT1 2 0 2
FGD1 2 0 2
HDAC8 2 0 2
HEXA 1 1 2
KMT2A 2 0 2
PGAP2 2 0 2
TRRAP 1 1 2
ALDH18A1 1 0 1
ATM 1 0 1
ATM, C11orf65 1 0 1
CBL 1 0 1
CENPJ 1 0 1
CHRNE 0 1 1
CHST3 1 0 1
COL11A1 1 0 1
COL11A2 1 0 1
CSPP1 0 1 1
DVL3 1 0 1
EFTUD2 1 0 1
ERCC8 0 1 1
FGFR3 1 0 1
FLNB 1 0 1
FOXC1 1 0 1
FOXG1 0 1 1
GLI3 1 0 1
GRIN2B 1 0 1
KIF7 1 0 1
KRAS 1 0 1
LEMD2 0 1 1
LMNA 1 0 1
NF1 1 0 1
NOTCH3 1 0 1
NSD1 1 0 1
PAX3 1 0 1
PIGG 1 0 1
PIGO 1 0 1
PIGV 1 0 1
PPM1D 0 1 1
RAF1 1 0 1
RPS6KA3 1 0 1
RUNX2 1 0 1
SCAF4 1 0 1
SMARCA2 1 0 1
SMARCB1 1 0 1
SMS 0 1 1
SON 1 0 1
SOX5 1 0 1
TCF4 1 0 1
TGFBR2 1 0 1
ZEB2 1 0 1

Condition and significance breakdown #

Total conditions: 66
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Condition pathogenic likely pathogenic total
Noonan syndrome 1 22 0 22
Coffin-Siris syndrome 1 7 0 7
Cardiofaciocutaneous syndrome 1 6 0 6
Kabuki syndrome 1 6 0 6
Primary autosomal recessive microcephaly 1 6 0 6
KBG syndrome 5 0 5
Autosomal recessive cutis laxa type 2B 4 0 4
CHARGE association 4 0 4
Crouzon syndrome 3 0 3
Hyperphosphatasia with mental retardation syndrome 1 3 0 3
Otospondylomegaepiphyseal dysplasia, autosomal dominant 3 0 3
Rett syndrome 3 0 3
Rubinstein-Taybi syndrome 1 3 0 3
Aarskog syndrome 2 0 2
Ataxia-telangiectasia syndrome 2 0 2
Bohring-Opitz syndrome 2 0 2
Cornelia de Lange syndrome 1 2 0 2
Hyperphosphatasia with mental retardation syndrome 3 2 0 2
Kleefstra syndrome 1 2 0 2
Langer-Giedion syndrome 2 0 2
Larsen syndrome, dominant type 2 0 2
Mental retardation, X-linked 102 2 0 2
Mental retardation, autosomal dominant 7 0 2 2
Smith-Lemli-Opitz syndrome 2 0 2
Tay-Sachs disease 1 1 2
Wiedemann-Steiner syndrome 2 0 2
Acrocallosal syndrome 1 0 1
Albinism, ocular, with sensorineural deafness 1 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 1
Axenfeld-Rieger syndrome type 3 1 0 1
Cleidocranial dysostosis 1 0 1
Cockayne syndrome type A 0 1 1
Coffin-Lowry syndrome 1 0 1
Cutis laxa, autosomal recessive IIIA 1 0 1
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM 1 0 1
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; TRAPP-associated developmental delay 0 1 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 1
Global developmental delay 1 0 1
Global developmental delay; Delayed speech and language development; Microcephaly 1 0 1
Greig cephalopolysyndactyly syndrome 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 1
Joubert syndrome 21 0 1 1
Lamb-shaffer syndrome 1 0 1
Lateral meningocele syndrome 1 0 1
Loeys-Dietz syndrome 1 1 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 1
Marshall syndrome 1 0 1
Menke-Hennekam syndrome 2 0 1 1
Mental retardation, autosomal dominant 14 0 1 1
Mental retardation, autosomal dominant 15 1 0 1
Mental retardation, autosomal dominant 6; Behavioral abnormality; Self-injurious behavior; Sleep disturbance; Microcephaly; Intellectual disability; Muscular hypotonia 1 0 1
Mowat-Wilson syndrome 1 0 1
Muenke syndrome 1 0 1
Myasthenic syndrome, congenital, 4a, slow-channel 0 1 1
Neurofibromatosis, type 1 1 0 1
Nicolaides-Baraitser syndrome 1 0 1
Pitt-Hopkins syndrome 1 0 1
Rett syndrome, congenital variant 0 1 1
Robinow syndrome, autosomal dominant 1 1 0 1
Rubinstein-Taybi syndrome 2 1 0 1
SCAF4-associated mental retardation 1 0 1
Sotos syndrome 1 1 0 1
Syndromic X-linked intellectual disability Snyder type 0 1 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; Abnormality of the nasal dorsum; Lipoatrophy 0 1 1
Trichorhinophalangeal dysplasia type I 1 0 1
ZTTK syndrome 1 0 1

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