ClinVar Miner

Variants from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles

Location: Belgium  Primary collection method: clinical testing
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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
31 13 15 0 0 59

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ASPM 13 0 0 13
WDR62 6 3 2 11
DNAH2 0 0 6 6
CDK5RAP2 1 0 2 3
CEP135 0 0 3 3
CEP152 0 3 0 3
MCPH1 2 1 0 3
BLM 2 0 0 2
LIG4 1 1 0 2
TUBGCP6 0 2 0 2
AP4M1 0 1 0 1
ERCC8 1 0 0 1
IGF2BP3 0 0 1 1
KIF11 1 0 0 1
KNL1 1 0 0 1
PNKP 1 0 0 1
RTTN 1 0 0 1
TRAPPC9 0 1 0 1
TRMT10A 0 1 0 1
TSR1 0 0 1 1
TUBA1A 1 0 0 1

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance total
Microcephaly 5, primary, autosomal recessive 13 0 0 13
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 6 3 2 11
Primary microcephaly 0 0 8 8
Microcephaly 1, primary, autosomal recessive 2 1 0 3
Microcephaly 3, primary, autosomal recessive 1 0 2 3
Microcephaly 8, primary, autosomal recessive 0 0 3 3
Microcephaly 9, primary, autosomal recessive 0 3 0 3
Bloom syndrome 2 0 0 2
DNA ligase IV deficiency 1 1 0 2
Microcephaly and chorioretinopathy 1 0 2 0 2
Cockayne syndrome type 1 1 0 0 1
Hereditary spastic paraplegia 50 0 1 0 1
Intellectual disability, autosomal recessive 13 0 1 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 1
Microcephalic primordial dwarfism due to RTTN deficiency 1 0 0 1
Microcephaly 4, primary, autosomal recessive 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 0 0 1
Microcephaly, seizures, and developmental delay 1 0 0 1
Microcephaly, short stature, and impaired glucose metabolism 1 0 1 0 1

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