ClinVar Miner

Variants from ClinGen RASopathy Variant Curation Expert Panel,

Location: United States — Primary collection method: curation
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
57 17 12 48 123 257

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SOS1 10 4 1 13 24 52
MAP2K2 4 2 4 8 26 44
BRAF 11 3 0 3 17 34
RAF1 7 2 2 6 14 31
PTPN11 10 2 1 4 13 30
HRAS, LRRC56 4 1 2 2 9 18
MAP2K1 3 3 0 2 9 17
SHOC2 1 0 2 6 7 16
KRAS 7 0 0 3 2 12
MAP2K1, SNAPC5 0 0 0 1 2 3

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Rasopathy 8 5 7 47 121 188
Noonan syndrome 23 1 0 0 0 24
Noonan syndrome and Noonan-related syndrome 7 7 3 1 2 20
Cardio-facio-cutaneous syndrome 13 3 0 0 0 16
Costello syndrome 3 1 2 0 0 6
Noonan syndrome with multiple lentigines 2 0 0 0 0 2
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 0 1

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