ClinVar Miner

Variants from Bicknell laboratory, University of Otago

Location: New Zealand  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
29 1 3 0 0 33

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
DONSON 6 0 0 6
MCM7 4 0 0 4
ORC6 4 0 0 4
ORC1 3 0 0 3
CDT1 2 0 0 2
SLC35C1 2 0 0 2
ABL1 1 0 0 1
ACAN 0 0 1 1
ACTB 1 0 0 1
CDC45 1 0 0 1
CDK13 1 0 0 1
CTB-99A3.1, PPP2R2B 0 0 1 1
DNMT3A 1 0 0 1
DPF2 1 0 0 1
EP300 1 0 0 1
MCM3 0 0 1 1
PAX1 0 1 0 1
TUBB4A 1 0 0 1

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance total
Meier-Gorlin syndrome 10 0 1 11
Meier-Gorlin syndrome 3 4 0 0 4
Meier-Gorlin syndrome 1 3 0 0 3
Leukocyte adhesion deficiency type II 2 0 0 2
Meier-Gorlin syndrome 4 2 0 0 2
Microcephaly 2 0 0 2
Autism spectrum disorder 1 0 0 1
Baraitser-Winter syndrome 1 1 0 0 1
Coffin-Siris syndrome 7 1 0 0 1
Craniofacial microsomia 0 1 0 1
Meier-Gorlin syndrome 7 1 0 0 1
Neurodevelopmental disorder 0 0 1 1
Osteochondritis dissecans 0 0 1 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 1

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