ClinVar Miner

Variants from Bruce Lefroy Centre, Murdoch Childrens Research Institute

Location: United States  Primary collection method: research
Minimum submission review status: Collection method:
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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
13 18 3 0 0 34

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TUBA1A 1 2 1 4
BOLA3 1 1 0 2
COL4A1 1 1 0 2
DARS2 1 1 0 2
LSS 1 1 0 2
SLC17A5 2 0 0 2
ACTG1 0 1 0 1
AGO2 1 0 0 1
COL4A2 0 1 0 1
FH 0 1 0 1
FIG4 1 0 0 1
GLS 0 1 0 1
GPSM2 0 1 0 1
GRIN2B 0 1 0 1
LOC126860792, PMPCA 0 0 1 1
LOC126861242, NDUFV1 0 1 0 1
NEDD4L 0 1 0 1
PIK3CA 0 1 0 1
PMPCA 1 0 0 1
SCN2A 1 0 0 1
SCN8A 1 0 0 1
SPTBN1 0 0 1 1
STAG2 1 0 0 1
TUBB2B 0 1 0 1
TUBB4A 0 1 0 1
WDR62 0 1 0 1

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance total
Lissencephaly due to TUBA1A mutation 1 2 1 4
Autosomal recessive spinocerebellar ataxia 2 1 0 1 2
Brain small vessel disease 1 with or without ocular anomalies 1 1 0 2
Hypotrichosis 14 1 1 0 2
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 1 0 2
Multiple mitochondrial dysfunctions syndrome 2 1 1 0 2
Sialic acid storage disease, severe infantile type 2 0 0 2
Baraitser-winter syndrome 2 0 1 0 1
Charcot-Marie-Tooth disease type 4J 1 0 0 1
Chudley-McCullough syndrome 0 1 0 1
Complex cortical dysplasia with other brain malformations 7 0 1 0 1
Developmental and epileptic encephalopathy, 11 1 0 0 1
Developmental and epileptic encephalopathy, 13 1 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 0 1 1
Fumarase deficiency 0 1 0 1
Hypomyelinating leukodystrophy 6 0 1 0 1
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 0 1 0 1
Intellectual disability, autosomal dominant 6 0 1 0 1
Lessel-Kreienkamp syndrome 1 0 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 0 1 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 1 0 1
Mitochondrial complex 1 deficiency, nuclear type 4 0 1 0 1
Mullegama-Klein-Martinez syndrome 1 0 0 1
Periventricular nodular heterotopia 7 0 1 0 1
Porencephaly 2 0 1 0 1

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