ClinVar Miner

Variants from International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

Location: United Kingdom — Primary collection method: research
Minimum submission review status: Collection method:
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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
1196 201 747 99 182 2425

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MLH1 500 98 270 31 53 952
MSH2 472 73 237 33 49 864
MSH6 163 19 205 29 46 462
PMS2 58 11 31 6 28 134
AIMP2, PMS2 0 0 2 0 3 5
FBXO11, MSH6 2 0 2 0 1 5
EPM2AIP1, MLH1 0 0 0 0 1 1
EPM2AIP1, MLH1, TRANK1 1 0 0 0 0 1
LRRFIP2, MLH1 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Lynch syndrome 1156 170 714 88 173 2301
Lynch syndrome I 40 31 33 11 9 124

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