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
2889 390 8138 5451 635 1 17501

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH6 898 78 2870 2025 203 0 6074
MSH2 778 118 1865 1432 240 1 4432
PMS2 436 60 1918 1013 87 0 3513
MLH1 662 127 1371 937 100 0 3197
EPCAM 22 2 49 13 0 0 86
LOC129933707, MSH6 3 3 23 31 2 0 62
EPCAM, MSH2 19 0 7 0 0 0 26
AIMP2, PMS2 11 0 7 0 0 0 18
EPCAM, LOC129933695, MIR559, MSH2 14 0 3 0 0 0 17
EPM2AIP1, MLH1 9 0 4 0 1 0 14
EPCAM, MIR559 7 0 3 0 0 0 10
EPM2AIP1, LOC129936471, MLH1 8 0 2 0 0 0 10
LOC129933707, LOC129933708, MSH6 5 1 3 0 0 0 9
LOC129997916, PMS2 4 0 4 0 1 0 9
FBXO11, MSH6 2 0 3 0 1 0 6
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 1 0 1 0 0 0 2
BCYRN1, EPCAM, MSH2 2 0 0 0 0 0 2
CCZ1, OCM, PMS2, RSPH10B 2 0 0 0 0 0 2
APRG1, GOLGA4, ITGA9, LRRFIP2, MLH1 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
EPM2AIP1, MLH1, TRANK1 1 0 0 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: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2888 388 8137 5451 635 0 17497
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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