ClinVar Miner

Variants from Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille

Location: France — 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
81 20 5 32 0 138

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
TBX5 50 11 3 0 64
KMT2A 4 1 1 2 8
ANKRD11 3 1 0 0 4
WNT10B 2 2 0 0 4
EP300 1 0 0 2 3
FOXP1 0 0 0 3 3
FRAS1 2 1 0 0 3
MED13L 2 0 0 1 3
ARID1B 0 0 0 2 2
CHD8 0 0 0 2 2
GRIN1 0 0 0 2 2
KAT6B 0 0 0 2 2
KDM5C 2 0 0 0 2
KMT2D 0 1 0 1 2
SETBP1 0 0 0 2 2
SHANK3 1 1 0 0 2
SLC9A6 2 0 0 0 2
SMARCA2 0 0 1 1 2
SYNGAP1 2 0 0 0 2
VPS13B 2 0 0 0 2
CCDC134 1 0 0 0 1
CDH15 0 0 0 1 1
CTNNB1 0 0 0 1 1
CUL4B 1 0 0 0 1
DSCAM 0 0 0 1 1
DYRK1A 1 0 0 0 1
FOXG1 0 0 0 1 1
GATAD2B 0 0 0 1 1
GRIN2B 0 0 0 1 1
KAT6A 0 0 0 1 1
KCNQ2 0 1 0 0 1
MECP2 1 0 0 0 1
NAA10 0 0 0 1 1
NRXN1 0 0 0 1 1
POGZ 0 1 0 0 1
POLR3B 1 0 0 0 1
SCN2A 1 0 0 0 1
SHANK2 0 0 0 1 1
SLC6A1 0 0 0 1 1
SMC1A 1 0 0 0 1
TBR1 0 0 0 1 1
WDR45 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Holt-Oram syndrome 50 11 3 0 64
Intellectual disability 0 0 0 22 22
Wiedemann-Steiner syndrome 4 1 1 1 7
KBG syndrome 3 1 0 0 4
Mental retardation, autosomal dominant 1 0 1 2 4
Split-hand/foot malformation 6 2 2 0 0 4
Cryptophthalmos syndrome 2 1 0 0 3
22q13.3 deletion syndrome 1 1 0 0 2
Autism, susceptibility to, 18 0 0 0 2 2
Christianson syndrome 2 0 0 0 2
Cohen syndrome 2 0 0 0 2
Mental retardation and distinctive facial features with or without cardiac defects 2 0 0 0 2
Mental retardation, autosomal dominant 5 2 0 0 0 2
Mental retardation, syndromic, Claes-Jensen type, X-linked 2 0 0 0 2
Rubinstein-Taybi syndrome 2 1 0 0 1 2
Autism 17 0 0 0 1 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 1
Early infantile epileptic encephalopathy 7 0 1 0 0 1
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 1 0 0 0 1
Kabuki syndrome 1 0 1 0 0 1
Mental retardation, X-linked, syndromic 13 1 0 0 0 1
Mental retardation, autosomal dominant 18 0 0 0 1 1
Mental retardation, autosomal dominant 32 0 0 0 1 1
Mental retardation, autosomal dominant 7 1 0 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Ovarian dysgenesis 3 0 0 0 1 1
Recurrent fractures 1 0 0 0 1
Syndromic X-linked mental retardation, Cabezas type 1 0 0 0 1
White-sutton syndrome 0 1 0 0 1

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