ClinVar Miner

Variants from Sydney Children's Hospital, SCHN

Location: Australia  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
21 9 14 0 0 44

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
THOC2 2 3 13 18
CLCN4 10 0 1 11
ATN1 5 4 0 9
MAOA 2 0 0 2
KCNT2 1 0 0 1
SLC9A7 0 1 0 1
TCF20 0 1 0 1
ZSWIM6 1 0 0 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance total
X-linked intellectual disability-short stature-overweight syndrome 2 3 13 18
CLCN4-related disorder 10 0 1 11
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 2 3 0 5
Congenital ATN1 related disorder 3 1 0 4
Brunner syndrome 2 0 0 2
KCNT2-related condition 1 0 0 1
SLC9A7-related neurodevelopmental disorder 0 1 0 1
TCF20-related condition 0 1 0 1
ZSWIM6 related intellectual disability 1 0 0 1

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