ClinVar Miner

Variants studied for attenuated familial adenomatous polyposis

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 established risk allele risk factor not provided total
2330 525 10488 5144 1467 1 1 5 59 18673

Gene and significance breakdown #

Total genes and gene combinations: 34
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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 1827 234 6208 2355 1270 1 1 1 14 10864
POLD1 4 3 2389 1739 99 0 0 3 6 4173
MUTYH 196 172 1090 740 27 0 0 0 17 2081
POLE 6 8 463 254 62 0 0 1 6 769
MSH3 190 53 32 4 0 0 0 0 6 281
NTHL1 64 39 141 4 0 0 0 0 8 232
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 18 5 1 0 0 0 0 25
DHFR, MSH3 8 0 2 1 2 0 0 0 0 13
AXIN2 5 5 0 0 0 0 0 0 1 11
LOC126807437, MSH3 8 0 0 0 0 0 0 0 0 8
APC, REEP5, SRP19 1 0 1 0 0 0 0 0 0 2
​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
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
APC, 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
KCNC3, MYH14, NAPSA, NR1H2, POLD1 0 0 1 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
NTHL1, TSC2 0 0 1 0 0 0 0 0 0 1
PHKG2 0 1 0 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: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor not provided total
Invitae 1257 162 9566 4741 296 1 0 0 0 16023
Myriad Genetics, Inc. 1502 150 181 264 1118 0 0 0 0 3215
Baylor Genetics 109 125 1364 0 0 0 0 0 0 1598
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 10 192 108 23 0 0 0 0 356
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 15 0 0 0 0 0 0 0 39
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
Neuberg Centre For Genomic Medicine, NCGM 4 1 16 0 0 0 0 0 0 21
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
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 5 0 0 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
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus 8 0 0 0 0 0 0 0 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 5 1 0 0 0 0 0 1 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 0 0 0 7
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
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
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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 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
Department of Human Genetics, Hannover Medical School 0 0 1 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
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 0 0 1

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