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: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MLH1 499 96 19 30 53 697
MSH2 469 71 16 33 49 638
MSH6 160 19 2 30 42 253
PMS2 57 11 1 6 28 103
LOC129933695, MSH2 4 0 0 0 0 4
AIMP2, PMS2 0 0 0 0 3 3
LOC129933706, MSH6 0 0 0 0 3 3
EPM2AIP1, MLH1 0 0 0 1 1 2
FBXO11, MSH6 1 0 0 0 1 2
LOC129933705, LOC129933706, LOC129933707, LOC129933708, MSH6 2 0 0 0 0 2
EPM2AIP1, LOC115995508, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, MLH1, TRANK1 1 0 0 0 0 1
FBXO11, LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 0 0 0 1
LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 0 0 0 1
LOC129933707, MSH6 0 0 0 0 1 1
LOC129936471, MLH1 1 0 0 0 0 1
LOC129997916, PMS2 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 1160 173 23 89 173 1618
Lynch syndrome 1 37 24 15 11 9 96

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