ClinVar Miner

Variants studied for Noonan syndrome and Noonan-related syndrome

Coded as:
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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
84 39 205 82 147 557

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SOS1 10 6 27 13 17 73
PTPN11 33 5 16 3 7 64
CBL 1 2 33 8 13 57
BRAF 11 4 15 8 14 52
SPRED1 6 5 14 5 13 43
LZTR1 1 5 15 5 14 40
MAP2K2 0 1 16 6 12 35
RAF1 4 2 14 9 6 35
SOS2 0 0 3 2 20 25
HRAS, LRRC56 5 3 4 5 7 24
SHOC2 1 0 13 3 6 23
RIT1 7 3 8 2 1 21
MAP2K1 1 1 6 4 7 19
NRAS 3 2 4 2 0 11
KRAS 1 0 3 2 4 10
CBL, FRA11B, LOC130006894 0 0 5 0 0 5
CBL, LOC130006895 0 0 2 1 1 4
MAP2K1, SNAPC5 0 0 2 1 1 4
LOC130067016, LZTR1 0 0 0 1 2 3
BRAF, LOC126860202 0 0 0 1 1 2
KRAS, LOC130007561 0 0 2 0 0 2
LOC129933535, SOS1 0 0 1 1 0 2
LOC130055588, SOS2 0 0 1 0 0 1
LOC130063193, MAP2K2 0 0 1 0 0 1
MKRN2, RAF1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome Diagnostics Laboratory, The Hospital for Sick Children 78 33 202 81 145 539
ClinGen RASopathy Variant Curation Expert Panel 7 7 3 1 2 20

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