ClinVar Miner

Variants studied for attenuated familial adenomatous polyposis

Included ClinVar conditions (17):
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 risk factor not provided total
820 184 9031 2879 305 1 5 5 12932

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
APC 691 89 3824 920 142 1 1 3 5530
POLE 2 3 3006 1040 82 0 1 0 4082
POLD1 3 2 1484 660 65 0 3 0 2179
MUTYH 113 86 673 237 14 0 0 1 1057
MUTYH, TOE1 2 0 35 20 1 0 0 0 58
MSH3 5 1 3 0 0 0 0 1 10
NTHL1 2 2 5 1 0 0 0 0 10
ABLIM3, ACSL6, ADAMTS19, ADGRV1, ADRB2, AFAP1L1, AFF4, ALDH7A1, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, 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, FAM172A, 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, 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, SPOCK1, SPRY4, SRA1, SRFBP1, SRP19, ST8SIA4, STARD4, STING1, STK32A, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TEX43, TGFBI, TICAM2, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM161B, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TSLP, TSSK1B, TTC37, 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 1
APC, LOC102467216, LOC121079956 0 1 0 0 0 0 0 0 1
APC, LOC112997553, REEP5, SRP19 1 0 0 0 0 0 0 0 1
DHFR, MSH3 0 0 0 1 0 0 0 0 1
EIF2B3, HECTD3, HPDL, MUTYH, PTCH2, TOE1, UROD, ZSWIM5 0 0 1 0 0 0 0 0 1
GALNT12 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 743 113 8792 2646 286 1 0 0 12581
Counsyl 21 42 377 226 24 0 0 0 690
Mendelics 21 11 233 104 15 0 0 0 384
Fulgent Genetics,Fulgent Genetics 16 1 106 1 1 0 0 0 125
Department of Pathology and Laboratory Medicine,Sinai Health System 19 0 29 28 9 0 0 0 85
Illumina Clinical Services Laboratory,Illumina 6 3 45 6 4 0 0 0 64
OMIM 51 0 0 0 0 0 4 0 55
Baylor Genetics 5 0 34 0 0 0 0 0 39
Integrated Genetics/Laboratory Corporation of America 17 11 0 0 0 0 0 0 28
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 17 8 0 0 0 0 0 0 25
Pathway Genomics 9 0 7 2 2 0 0 0 20
Molecular Oncology Laboratory,Hospital Clínico San Carlos 3 2 12 1 2 0 0 0 20
GeneReviews 15 0 0 0 1 0 0 0 16
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 12 0 0 0 0 0 14
CSER _CC_NCGL, University of Washington 1 0 8 1 0 0 0 0 10
Division of Medical Genetics, University of Washington 2 1 7 0 0 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 2 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 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 0 3 0 0 0 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 1 2 0 0 0 0 0 5
Yale Center for Mendelian Genomics,Yale University 5 0 0 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 5 5
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 2 2 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 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 2 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 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 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 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 3
Clinical Genetics laboratory, University of Goettingen 1 0 1 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 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 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 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 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 1 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 0 1 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 1 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 1

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