ClinVar Miner

Variants from Genome Medicine, Institute for Basic Research in Developmental Disabilities

Location: United States  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
22 22 12 6 0 62

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
TAF1 6 14 10 6 36
ANKRD11 15 5 1 0 21
SLC30A9 0 2 0 0 2
ITPR1 1 0 0 0 1
MFN2 0 1 0 0 1
VAC14 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Intellectual disability, X-linked, syndromic 33 6 14 10 6 36
KBG syndrome 15 5 1 0 21
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 0 2 0 0 2
Cerebellar ataxia 0 1 0 0 1
Spinocerebellar ataxia type 29 1 0 0 0 1
Striatonigral degeneration, childhood-onset 0 0 1 0 1

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