ClinVar Miner

Variants from Laboratory of Molecular Genetics,CHU RENNES

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
0 45 22 0 0 67

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination likely pathogenic uncertain significance total
FGFR1 6 0 6
GLI2 5 1 6
FGF8 4 0 4
ARID1B 3 0 3
DISP1 1 2 3
GRIN2B 3 0 3
DLL1 0 2 2
IQSEC2 2 0 2
SMARCA2 1 1 2
STXBP1 2 0 2
ADNP 1 0 1
ANKRD11 1 0 1
ASXL3 1 0 1
ATP8A2 0 1 1
AUTS2 1 0 1
CACNA1C 0 1 1
CDK5RAP2 0 1 1
DLG3 0 1 1
DOCK6 0 1 1
EP300 1 0 1
FOXG1 1 0 1
FOXP1 1 0 1
KAT6B 0 1 1
KCNQ2 1 0 1
KIF11 1 0 1
KLF7 0 1 1
KMT2A 1 0 1
KMT5B 0 1 1
MEF2C 0 1 1
NFIA 1 0 1
NRXN2 0 1 1
POGZ 0 1 1
PORCN 1 0 1
RARS2 0 1 1
RORA 1 0 1
SATB2 0 1 1
SCN2A 1 0 1
SLC2A1 1 0 1
SLC35A2 1 0 1
SMARCA4 0 1 1
STRADA 0 1 1
SUFU 0 1 1
TCF4 1 0 1
USP9X 1 0 1

Condition and significance breakdown #

Total conditions: 33
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Condition likely pathogenic uncertain significance total
Severe intellectual deficiency 7 2 9
microform holoprosencephaly 7 2 9
intellectual deficiency 3 2 5
Holoprosencephaly sequence 3 1 4
Epilepsy; intellectual deficiency 0 3 3
Lobar holoprosencephaly 1 2 3
Semilobar holoprosencephaly 3 0 3
Coffin-Siris syndrome 2 0 2
Epilepsy; Severe intellectual deficiency 0 2 2
Epileptic encephalopathy 2 0 2
Hartsfield syndrome 2 0 2
intellectual deficiency; dysmorphy 1 1 2
Alobar holoprosencephaly 0 1 1
Ataxia; intellectual deficiency 1 0 1
Autism, severe; intellectual deficiency 1 0 1
Autistic disorder of childhood onset 1 0 1
Autistic disorder of childhood onset; Severe intellectual deficiency 1 0 1
Congenital hydrocephalus 1; Macrocephalus 0 1 1
Congenital ocular coloboma; intellectual deficiency; Muscular hypotonia 0 1 1
Craniosynostosis 1; Arachnodactyly 0 1 1
Epilepsy; Ataxia; intellectual deficiency 1 0 1
Epilepsy; Microcephaly; intellectual deficiency 1 0 1
Epilepsy; Polyhydramnios; intellectual deficiency 0 1 1
Focal dermal hypoplasia 1 0 1
Language retardation 0 1 1
Macrocephalus; Cleft palate 1 0 1
Microcephaly; Retinal dysplasia; Lymphoedema 1 0 1
Microcephaly; intellectual deficiency 1 0 1
Moderate intellectual deficiency 1 0 1
Nicolaides-Baraitser syndrome 1 0 1
Obesity; intellectual deficiency 0 1 1
Pierre Robin-like syndrome 1 0 1
intellectual deficiency; Language retardation 1 0 1

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