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
1197 197 38 100 182 1714

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 96 19 31 53 699
MSH2 473 71 16 33 49 642
MSH6 163 19 2 30 46 260
PMS2 58 11 1 6 28 104
AIMP2, PMS2 0 0 0 0 3 3
FBXO11, MSH6 2 0 0 0 1 3
EPM2AIP1, LOC115995508, MLH1, TRANK1 1 0 0 0 0 1
EPM2AIP1, MLH1 0 0 0 0 1 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 1160 173 23 89 173 1618
Lynch syndrome I 37 24 15 11 9 96

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