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
1 46 22 0 0 69

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
FGFR1 0 6 0 6
GLI2 0 5 1 6
FGF8 0 4 0 4
ARID1B 0 3 0 3
DISP1 0 1 2 3
GRIN2B 0 3 0 3
IQSEC2 0 2 0 2
PIGL 1 1 0 2
SMARCA2 0 1 1 2
STXBP1 0 2 0 2
ADNP 0 1 0 1
ANKRD11 0 1 0 1
ASXL3 0 1 0 1
ATP8A2 0 0 1 1
AUTS2 0 1 0 1
CACNA1C 0 0 1 1
CDK5RAP2 0 0 1 1
DLG3 0 0 1 1
DLL1 0 0 1 1
DLL1, LOC126859913 0 0 1 1
DOCK6 0 0 1 1
EP300 0 1 0 1
FOXG1 0 1 0 1
FOXP1 0 1 0 1
KAT6B 0 0 1 1
KCNQ2 0 1 0 1
KIF11 0 1 0 1
KLF7 0 0 1 1
KMT2A 0 1 0 1
KMT5B 0 0 1 1
MEF2C 0 0 1 1
NFIA 0 1 0 1
NRXN2 0 0 1 1
POGZ 0 0 1 1
PORCN 0 1 0 1
RARS2 0 0 1 1
RORA 0 1 0 1
SATB2 0 0 1 1
SCN2A 0 1 0 1
SLC2A1 0 1 0 1
SLC35A2 0 1 0 1
SMARCA4 0 0 1 1
STRADA 0 0 1 1
SUFU 0 0 1 1
TCF4 0 1 0 1
USP9X 0 1 0 1

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance total
Microform holoprosencephaly 0 7 2 9
Severe intellectual deficiency 0 7 2 9
intellectual deficiency 0 3 2 5
Holoprosencephaly sequence 0 3 1 4
Epilepsy; intellectual deficiency 0 0 3 3
Lobar holoprosencephaly 0 1 2 3
Semilobar holoprosencephaly 0 3 0 3
Coffin-Siris syndrome 0 2 0 2
Epilepsy; Severe intellectual deficiency 0 0 2 2
Epileptic encephalopathy 0 2 0 2
Hartsfield-Bixler-Demyer syndrome 0 2 0 2
intellectual deficiency; dysmorphy 0 1 1 2
not provided 1 1 0 2
Alobar holoprosencephaly 0 0 1 1
Autism 0 1 0 1
Autism, severe; intellectual deficiency 0 1 0 1
Autism; Severe intellectual deficiency 0 1 0 1
Congenital ocular coloboma; intellectual deficiency; Hypotonia 0 0 1 1
Dyssynergia; intellectual deficiency 0 1 0 1
Epilepsy; Dyssynergia; intellectual deficiency 0 1 0 1
Epilepsy; Microcephaly; intellectual deficiency 0 1 0 1
Epilepsy; Polyhydramnios; intellectual deficiency 0 0 1 1
Focal dermal hypoplasia 0 1 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 1; Macrocephaly 0 0 1 1
Language retardation 0 0 1 1
Macrocephaly; Cleft palate 0 1 0 1
Microcephaly; Lymphedema; Retinal dysplasia 0 1 0 1
Microcephaly; intellectual deficiency 0 1 0 1
Moderate intellectual deficiency 0 1 0 1
Nicolaides-Baraitser syndrome 0 1 0 1
Obesity; intellectual deficiency 0 0 1 1
Pierre Robin-like syndrome 0 1 0 1
TWIST1-related craniosynostosis; Arachnodactyly 0 0 1 1
intellectual deficiency; Language retardation 0 1 0 1

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