ClinVar Miner

Variants from RettBASE

Location: Australia — Primary collection method: curation
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 not provided total
513 17 195 14 190 124 992

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MECP2 369 2 179 1 151 92 761
CDKL5 113 15 11 10 31 30 182
FOXG1 25 0 1 0 2 0 28
CDKL5, RS1 4 0 4 3 6 2 19
IRAK1, MECP2, MIR718 2 0 0 0 0 0 2

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rett syndrome 326 3 115 0 0 0 444
not specified 0 0 20 13 190 0 223
not provided 51 2 0 0 0 124 177
Early infantile epileptic encephalopathy 2 75 8 4 0 0 0 87
Atypical Rett syndrome 42 5 6 0 0 0 53
Mental retardation, X-linked, syndromic 13 12 0 24 1 0 0 37
Autism, susceptibility to, X-linked 3 4 0 23 1 0 0 28
Rett syndrome, congenital variant 20 0 1 0 0 0 21
Severe neonatal-onset encephalopathy with microcephaly 9 0 4 0 0 0 13
Angelman syndrome 7 0 2 0 0 0 9
Attention deficit hyperactivity disorder 1 0 0 1 0 0 2
Autistic disorder of childhood onset 1 0 1 0 0 0 2
Schizophrenia 0 0 1 0 0 0 1

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