ClinVar Miner

Variants studied for attenuated familial adenomatous polyposis

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 established risk allele risk factor not provided total
2323 518 10379 5144 1467 1 1 5 59 18557

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor not provided total
APC 1817 224 6160 2355 1270 1 1 1 14 10800
POLD1 4 3 2380 1739 99 0 0 3 6 4164
MUTYH 192 170 1078 740 27 0 0 0 17 2066
POLE 18 15 465 254 62 0 0 1 6 790
MSH3 190 53 31 4 0 0 0 0 6 280
NTHL1 64 38 102 4 0 0 0 0 8 192
MUTYH, TOE1 5 5 63 37 2 0 0 0 0 105
APC, LOC129994371 9 2 72 4 3 0 0 0 1 89
LOC130009266, POLE 0 1 19 5 1 0 0 0 0 26
DHFR, MSH3 8 0 2 1 2 0 0 0 0 13
LOC126807437, MSH3 8 0 0 0 0 0 0 0 0 8
AXIN2 1 5 0 0 0 0 0 0 1 7
​intergenic 1 1 0 0 0 0 0 0 0 1
ABLIM3, ACSL6, ADAMTS19, ADGRV1, ADRB2, AFAP1L1, AFF4, ALDH7A1, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARB2A, ARHGAP26, ARHGEF37, ARL14EPL, ARRDC3, ARSI, ARSK, ATG12, ATOX1, BRD8, C5orf15, C5orf24, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CAST, CATSPER3, CCDC112, CCDC69, CCNH, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDO1, CDX1, CEP120, CETN3, CHD1, CHSY3, COMMD10, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTXN3, CXCL14, CXXC5, CYSTM1, DCANP1, DCP2, DCTN4, DDX46, DELE1, DIAPH1, DMXL1, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, ELL2, EPB41L4A, ERAP1, ERAP2, ETF1, FAM114A2, FAM13B, FAM170A, FAM174A, FAM53C, FAM81B, FAT2, FBN2, FBXL17, FBXO38, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, FTMT, G3BP1, GALNT10, GDF9, GFRA3, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GPR150, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRGM, ISOC1, JADE2, JAKMIP2, KCNN2, KCTD16, KDM3B, KIAA0825, KIF20A, KIF3A, KLHL3, LARS1, LEAP2, LECT2, LIX1, LMNB1, LNPEP, LOX, LRRTM2, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAN2A1, MARCHF3, MATR3, MBLAC2, MCC, MCTP1, MEF2C, MEGF10, MFAP3, MINAR2, MIR143, MIR145, MIR378A, MIR9-2, MYOT, MYOZ3, MZB1, NDFIP1, NDST1, NDUFA2, NEUROG1, NME5, NMUR2, NR2F1, NR3C1, NREP, NRG2, NUDT12, P4HA2, PAIP2, PAM, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PJA2, PKD2L2, PLAC8L1, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PRDM6, PRELID2, PROB1, PRR16, PRRC1, PSD2, PURA, RAD50, RAPGEF6, RASA1, RBM22, RBM27, REEP2, REEP5, RELL2, RFESD, RGMB, RHOBTB3, RIOK2, RNF14, RPS14, SAP30L, SAR1B, SCGB3A2, SEC24A, SEMA6A, SEPTIN8, SH3RF2, SH3TC2, SHROOM1, SIL1, SKIC3, SKP1, SLC12A2, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SLCO4C1, SLCO6A1, SLF1, SMAD5, SMIM3, SNCAIP, SNHG4, SNX2, SNX24, SOWAHA, SPARC, SPATA24, SPATA9, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPMIP10, SPOCK1, SPRY4, SRA1, SRFBP1, SRP19, ST8SIA4, STARD4, STING1, STK32A, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TICAM2, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM161B, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TSLP, TSSK1B, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF608 1 0 0 0 0 0 0 0 0 1
ANKLE2, CHFR, GOLGA3, PGAM5, POLE, PXMP2, ZNF140, ZNF26, ZNF605, ZNF84 1 0 0 0 0 0 0 0 0 1
APC, DCP2, REEP5, SRP19 1 0 0 0 0 0 0 0 0 1
APC, LOC102467216, LOC121079956, LOC123497954, LOC129994371 0 1 0 0 0 0 0 0 0 1
APC, LOC112997553, LOC126807477, LOC129994372, REEP5, SRP19 1 0 0 0 0 0 0 0 0 1
APC, LOC112997553, REEP5, SRP19 1 0 0 0 0 0 0 0 0 1
BARD1 0 0 1 0 0 0 0 0 0 1
DDX51, EP400, FBRSL1, LRCOL1, MUC8, NOC4L, P2RX2, POLE, PUS1 0 0 1 0 0 0 0 0 0 1
EIF2B3, HECTD3, HPDL, MUTYH, PTCH2, TOE1, UROD, ZSWIM5 0 0 1 0 0 0 0 0 0 1
GALNT12 0 0 0 0 1 0 0 0 0 1
HPDL, MUTYH 1 0 0 0 0 0 0 0 0 1
LOC130058209, NTHL1 0 0 1 0 0 0 0 0 0 1
LOC130062899, STK11 0 0 1 0 0 0 0 0 0 1
LOC130064984, POLD1 0 0 0 1 0 0 0 0 0 1
LOC130064985, LOC130064986, POLD1 0 0 1 0 0 0 0 0 0 1
STK11 0 1 0 0 0 0 0 0 0 1
VDR 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 93
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor not provided total
Invitae 1258 165 9576 4741 296 1 0 0 0 16037
Myriad Genetics, Inc. 1502 150 181 264 1118 0 0 0 0 3215
Baylor Genetics 102 112 912 0 0 0 0 0 0 1126
Counsyl 21 42 377 226 24 0 0 0 0 690
All of Us Research Program, National Institutes of Health 43 25 253 107 7 0 0 0 0 435
Mendelics 23 10 193 108 23 0 0 0 0 357
Fulgent Genetics, Fulgent Genetics 29 5 230 48 7 0 0 0 0 319
KCCC/NGS Laboratory, Kuwait Cancer Control Center 12 1 16 62 146 0 0 0 0 237
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 4 1 173 4 1 0 0 0 0 183
Department of Pathology and Laboratory Medicine, Sinai Health System 19 0 29 28 9 0 0 0 0 85
MGZ Medical Genetics Center 11 11 42 0 0 0 0 0 0 64
Illumina Laboratory Services, Illumina 6 3 43 6 4 0 0 0 0 62
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 8 12 14 7 17 0 0 0 0 57
OMIM 51 0 0 0 0 0 0 4 0 55
Revvity Omics, Revvity 19 11 13 0 0 0 0 0 0 43
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 14 0 0 0 0 0 0 0 38
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 37 37
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 10 3 19 0 0 0 0 0 0 32
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 17 10 0 0 0 0 0 0 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 16 7 1 0 0 0 0 0 0 24
Pathway Genomics 9 0 7 2 2 0 0 0 0 20
Molecular Oncology Laboratory, Hospital Clínico San Carlos 3 2 12 1 2 0 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 5 8 0 0 0 0 0 0 17
Neuberg Centre For Genomic Medicine, NCGM 3 1 12 0 0 0 0 0 0 16
GeneReviews 2 0 0 0 0 0 0 0 13 15
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 12 0 0 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 7 3 4 0 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 14 14
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 13 0 0 0 0 0 0 0 0 13
Genetics and Molecular Pathology, SA Pathology 4 1 4 2 0 0 0 0 0 11
Human Genetics Bochum, Ruhr University Bochum 5 5 1 0 0 0 0 0 0 11
CSER _CC_NCGL, University of Washington 1 0 8 1 0 0 0 0 0 10
Division of Medical Genetics, University of Washington 2 1 7 0 0 0 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 6 0 0 0 0 0 0 9
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 7 1 0 0 0 0 9
deCODE genetics, Amgen 1 8 0 0 0 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 6 0 0 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 5 0 0 0 0 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 2 0 0 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 1 1 3 0 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 2 0 0 0 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 5 0 0 0 0 0 0 0 0 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 2 0 0 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 1 1 1 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 3 0 0 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 0 1 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 0 0 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 0 0 0 3
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 1 0 0 0 0 0 0 0 3
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus 3 0 0 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 0 0 0 3
New York Genome Center 1 0 1 0 0 0 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 1 1 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 2 0 0 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 0 1
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer 1 0 0 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 1 0 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 0 0 1
3billion 0 1 0 0 0 0 0 0 0 1
Laboratorio de Investigacion Basica Clinica, Universidad Autonoma de Nuevo Leon 1 0 0 0 0 0 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 0 0 1
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital 0 0 1 0 0 0 0 0 0 1

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