ClinVar Miner

Variants studied for Hereditary nonpolyposis colorectal neoplasms

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 not provided total
2836 380 8128 5451 635 1 17429

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 not provided total
MSH6 888 76 2867 2025 203 0 6059
MSH2 760 112 1863 1432 240 1 4407
PMS2 427 58 1915 1013 87 0 3499
MLH1 652 126 1371 937 100 0 3186
EPCAM 28 3 51 13 0 0 95
LOC129933707, MSH6 3 3 23 31 2 0 62
EPCAM, MSH2 18 0 5 0 0 0 23
EPCAM, LOC129933695, MIR559, MSH2 14 0 3 0 0 0 17
AIMP2, PMS2 9 0 6 0 0 0 15
EPCAM, MIR559 7 0 3 0 0 0 10
EPM2AIP1, LOC129936471, MLH1 8 0 2 0 0 0 10
EPM2AIP1, MLH1 6 0 3 0 1 0 10
LOC129933707, LOC129933708, MSH6 5 1 3 0 0 0 9
LOC129997916, PMS2 4 0 4 0 1 0 9
FBXO11, MSH6 1 0 3 0 1 0 5
EPCAM, LOC129933695, MSH2 2 0 1 0 0 0 3
FBXO11, KCNK12, MSH2, MSH2-OT1, MSH6 1 0 2 0 0 0 3
ABCG5, ABCG8, ARHGEF33, ATL2, ATP6V1E2, BCYRN1, CALM2, CAMKMT, CDKL4, COX7A2L, CRIPT, CYP1B1, DHX57, DYNC2LI1, EML4, EPAS1, EPCAM, GALM, GEMIN6, HAAO, HNRNPLL, KCNG3, LINC02898, LRPPRC, MAP4K3, MCFD2, MORN2, MSH2, MTA3, OXER1, PIGF, PKDCC, PLEKHH2, PPM1B, PREPL, PRKCE, RHOQ, RMDN2, SIX2, SIX3, SLC3A1, SLC8A1, SOCS5, SOS1, SOS1-IT1, SRBD1, SRSF7, STPG4, THADA, THUMPD2, TMEM178A, TMEM247, TTC7A, ZFP36L2 1 0 1 0 0 0 2
AIMP2, EIF2AK1, PMS2 0 0 1 0 0 0 1
BCYRN1, EPCAM, MSH2 1 0 0 0 0 0 1
CCZ1, OCM, PMS2, RSPH10B 1 0 0 0 0 0 1
EPCAM, KCNK12, LOC122757938, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, MIR559, MSH2, MSH2-OT1, MSH6 0 0 1 0 0 0 1
LOC129933695, MSH2 0 1 0 0 0 0 1
LOC129936471, MLH1 0 0 1 0 0 0 1
LRRFIP2, MLH1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2835 379 8127 5451 635 0 17425
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 1 1 0 0 0 2
Mendelics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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