ClinVar Miner

Variants studied for colonic disorder

Included ClinVar conditions (32):
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 association risk factor not provided total
351 68 372 137 75 3 1 11 1009

Gene and significance breakdown #

Total genes and gene combinations: 126
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
APC 92 3 76 26 23 0 1 0 218
MSH6 44 6 32 28 10 0 0 0 120
MSH2 53 7 27 9 9 0 0 0 105
MLH1 53 14 15 8 4 0 0 0 94
MUTYH 19 5 16 8 4 0 0 0 49
POLE 2 0 12 16 7 0 0 0 37
POLD1 0 0 8 13 11 0 0 1 33
PALB2 1 1 23 2 0 0 0 0 27
PMS2 12 2 8 4 1 0 0 0 27
KDR 0 0 14 0 0 0 0 0 14
FLT4, LOC126807632 0 0 13 0 0 0 0 0 13
AXIN2 2 0 9 0 1 0 0 0 12
ATM 2 1 2 4 2 0 0 0 11
TP53 3 2 6 0 0 0 0 0 11
​intergenic 0 0 7 0 0 3 0 0 10
FGFR3 7 0 3 0 0 0 0 0 10
ERBB3 5 3 3 0 0 0 0 0 9
FLT4 0 0 8 1 0 0 0 0 9
ATM, C11orf65 2 0 3 3 0 0 0 0 8
BUB1B 1 0 7 0 0 0 0 0 8
FLCN 3 1 4 0 0 0 0 0 8
FLT1 0 0 1 0 0 0 0 7 8
PIK3CA 5 0 2 0 0 0 0 0 7
RET 0 0 7 0 0 0 0 0 7
BRAF 5 2 0 0 0 0 0 0 6
CHEK2 1 3 2 0 0 0 0 0 6
BRCA2 0 2 2 1 0 0 0 0 5
SYK 2 2 1 0 0 0 0 0 5
BMPR1A 0 0 1 3 0 0 0 0 4
CDH1 0 0 4 0 0 0 0 0 4
PPARG 4 0 0 0 0 0 0 0 4
SMAD4 2 0 0 2 0 0 0 0 4
BARD1 0 0 2 1 0 0 0 0 3
CTNNB1, LOC126806658 3 0 0 0 0 0 0 0 3
EPCAM 3 0 0 0 0 0 0 0 3
FLT1, LOC126861720 0 0 0 0 0 0 0 3 3
PTEN 0 0 0 3 0 0 0 0 3
STK11 0 0 1 2 0 0 0 0 3
BAX 2 0 0 0 0 0 0 0 2
BRCA1 1 0 0 1 0 0 0 0 2
BRIP1 0 1 0 0 1 0 0 0 2
CFTR 0 0 2 0 0 0 0 0 2
EP300 2 0 0 0 0 0 0 0 2
MCC 2 0 0 0 0 0 0 0 2
PMS1 0 0 2 0 0 0 0 0 2
PTPRJ 2 0 0 0 0 0 0 0 2
RAD51C 0 0 2 0 0 0 0 0 2
RHCE 0 0 2 0 0 0 0 0 2
A2M, KLRG1 0 0 1 0 0 0 0 0 1
ABCF1, ABHD16A, AIF1, APOM, ATAT1, ATP6V1G2, BAG6, C6orf136, C6orf15, C6orf47, CCHCR1, CDSN, CSNK2B, DDR1, DDX39B, DHX16, FLOT1, GABBR1, GNL1, GPANK1, GPX5, GPX6, GTF2H4, HCG17, HCG22, HCG26, HCP5, HLA-A, HLA-B, HLA-C, HLA-E, HLA-F, HLA-G, IER3, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6D, LY6G6F, MAS1L, MCCD1, MDC1, MICA, MICB, MIR877, MOG, MRPS18B, MUC21, MUC22, MUCL3, NCR3, NFKBIL1, NKAPL, NRM, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2B3, OR2H1, OR2H2, OR2J2, OR2J3, OR2W1, OR5V1, PGBD1, POLR1H, POU5F1, PPP1R10, PPP1R11, PPP1R18, PRR3, PRRC2A, PSORS1C1, PSORS1C2, RNF39, RPP21, SCAND3, SFTA2, TCF19, TNF, TRA-TGC7-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TUBB, UBD, VARS2, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF311, ZSCAN12, ZSCAN16, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9 0 1 0 0 0 0 0 0 1
AGAP6, ARHGAP22, ASAH2, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FRMPD2, LRRC18, MAPK8, MSMB, NCOA4, OGDHL, PARG, PGBD3, SGMS1, SLC18A3, TIMM23, TMEM273, VSTM4, WASHC2A, WDFY4 0 1 0 0 0 0 0 0 1
AHNAK 0 1 0 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 0 1 0 0 0 0 0 0 1
AKT1 1 0 0 0 0 0 0 0 1
AKT3 0 1 0 0 0 0 0 0 1
AOPEP, FANCC 0 1 0 0 0 0 0 0 1
AP5Z1, FOXK1, RADIL 0 0 1 0 0 0 0 0 1
APC, LOC129994371 0 0 1 0 0 0 0 0 1
APPBP2, BCAS3, BRIP1, CA4, CHCT1, HEATR6, INTS2, LINC02875, MED13, NACA2, PPM1D, TBX2, TBX4, USP32 0 1 0 0 0 0 0 0 1
ATIC, FN1, LOC122861288, LOC122861289, LOC126806496, LOC126806497, LOC126806498, LOC126806499 0 0 1 0 0 0 0 0 1
ATP6V1C2, NOL10 0 0 1 0 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 1
BRCA1, LOC126862571 0 0 1 0 0 0 0 0 1
BRPF3 0 0 1 0 0 0 0 0 1
BUB1 1 0 0 0 0 0 0 0 1
C1orf174, DFFB 0 0 1 0 0 0 0 0 1
C2CD4B 0 0 1 0 0 0 0 0 1
C4orf46, ETFDH, LOC123493226, PPID, RXFP1 0 0 1 0 0 0 0 0 1
CASC15, LOC129995974, LOC129995975 0 0 1 0 0 0 0 0 1
CCDC102B, TMX3 0 0 1 0 0 0 0 0 1
CCDST, FLG 0 0 1 0 0 0 0 0 1
CDH17, GEM 0 0 1 0 0 0 0 0 1
CEP83 0 0 1 0 0 0 0 0 1
CIITA 0 0 1 0 0 0 0 0 1
CLDN18 0 0 1 0 0 0 0 0 1
CMC4, FUNDC2, LOC121627986, LOC130068895, MTCP1 0 0 1 0 0 0 0 0 1
COL3A1, LOC126806446, MIR3606 0 0 1 0 0 0 0 0 1
CRISP2 0 0 1 0 0 0 0 0 1
CTXND1 0 0 1 0 0 0 0 0 1
DCC 1 0 0 0 0 0 0 0 1
DES 0 0 1 0 0 0 0 0 1
DGCR2, DGCR6, PRODH 0 1 0 0 0 0 0 0 1
DLC1 1 0 0 0 0 0 0 0 1
DNAH12 0 0 1 0 0 0 0 0 1
EDN3 0 0 1 0 0 0 0 0 1
ETFDH 0 0 1 0 0 0 0 0 1
FANCE 0 1 0 0 0 0 0 0 1
FHIT, LOC107325936 0 1 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 1
GALNT11, KMT2C 0 0 1 0 0 0 0 0 1
GUCA1C, MORC1, TRAT1 0 0 1 0 0 0 0 0 1
HIC2 0 0 1 0 0 0 0 0 1
INO80D, NDUFS1 0 0 1 0 0 0 0 0 1
L3MBTL4 0 0 1 0 0 0 0 0 1
LINGO2 0 0 1 0 0 0 0 0 1
LOC120961747, SLC8A1 0 1 0 0 0 0 0 0 1
LOC129933707, LOC129933708, MSH6 1 0 0 0 0 0 0 0 1
LOC130009266, POLE 0 0 0 0 1 0 0 0 1
LOC130062899, STK11 0 0 0 1 0 0 0 0 1
MLH3 1 0 0 0 0 0 0 0 1
MMD2, RBAK, RBAK-RBAKDN 0 0 1 0 0 0 0 0 1
MRE11 1 0 0 0 0 0 0 0 1
MT-ND1 1 0 0 0 0 0 0 0 1
MTX2 0 0 1 0 0 0 0 0 1
MUTYH, TOE1 0 0 0 1 0 0 0 0 1
NBN 0 0 1 0 0 0 0 0 1
NRAS 1 0 0 0 0 0 0 0 1
OTOGL 0 0 1 0 0 0 0 0 1
PCNT 0 0 1 0 0 0 0 0 1
PDGFRA 0 0 0 0 1 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 1
PKHD1 1 0 0 0 0 0 0 0 1
PTPN12 1 0 0 0 0 0 0 0 1
RAD51D, RAD51L3-RFFL 0 0 1 0 0 0 0 0 1
RAD54B 1 0 0 0 0 0 0 0 1
RAD54L 1 0 0 0 0 0 0 0 1
REV3L 0 1 0 0 0 0 0 0 1
RNF43 1 0 0 0 0 0 0 0 1
SDK1 0 0 1 0 0 0 0 0 1
SEMA4A 0 0 1 0 0 0 0 0 1
SLC25A13 0 0 1 0 0 0 0 0 1
SLC29A4, TNRC18, WIPI2 0 0 1 0 0 0 0 0 1
SLC6A6 0 1 0 0 0 0 0 0 1
SWT1, TRMT1L 0 0 1 0 0 0 0 0 1
TMEM132C 0 0 1 0 0 0 0 0 1
XRCC2 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Department of Pathology and Laboratory Medicine, Sinai Health System 256 35 174 133 73 0 0 0 671
Fulgent Genetics, Fulgent Genetics 20 3 49 0 2 0 0 0 74
Clinical Genetics, Erasmus University Medical Center 0 10 45 0 0 0 0 0 55
OMIM 46 0 0 0 0 0 0 0 46
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 10 45
3DMed Clinical Laboratory Inc 13 0 18 1 0 0 0 0 32
Leiden Open Variation Database 0 0 19 0 0 0 0 0 19
Pathway Genomics 8 1 3 1 1 0 0 0 14
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 10 3 1 0 0 0 0 0 14
CSER _CC_NCGL, University of Washington 0 1 7 1 0 0 0 0 9
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer 0 6 0 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 4 0 0 0 0 0 6
Klinik und Poliklinik für Kinderchirurgie, Technische Universität Dresden, Universitätsklinikum Carl Gustav Carus 0 0 6 0 0 0 0 0 6
Aleixo Muise Laboratory, Hospital For Sick Children 2 2 1 0 0 0 0 0 5
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 3 0 0 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 2 0 0 0 0 0 3
Mendelics 0 0 1 1 0 0 0 0 2
Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 2 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 0 0 2
Cancer Genetics Service, National Cancer Centre Singapore 0 0 2 0 0 0 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 1 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
The Canberra Hospital 1 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 0 0 1
Department of Molecular and Medical Genetics, Osaka Medical Center for Cancer and Cardiovascular Diseases 0 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 0 0 0 1 0 1
Medical Genetics Department, and Science and Technology Unit, Umm-al-Qura University 1 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1

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