ClinVar Miner

Variants studied for Hereditary cancer-predisposing syndrome

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 risk factor total
5553 1419 22878 15126 1477 1 44724

Gene and significance breakdown #

Total genes and gene combinations: 119
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
BRCA2 1007 101 2645 1552 269 0 5209
BRCA1 682 101 1342 1043 169 0 3137
APC 237 34 1546 847 71 1 2643
ATM 289 76 1368 877 75 0 2561
MSH6 302 59 1288 754 54 0 2357
MSH2 289 58 930 493 39 0 1731
NF1 180 44 874 517 21 0 1635
PALB2 270 44 864 486 38 0 1614
ATM, C11orf65 172 63 818 433 24 0 1462
BRIP1 110 40 781 439 23 0 1341
RAD50 135 35 836 249 13 0 1252
PMS2 111 30 652 408 46 0 1169
MLH1 152 59 555 381 44 0 1139
CDH1 76 21 612 442 31 0 1127
BARD1 89 17 667 350 27 0 1116
CHEK2 97 60 582 263 8 0 979
NBN 74 22 510 330 27 0 919
TP53 123 115 320 315 26 0 857
SMARCA4 4 0 368 379 18 0 769
MUTYH 57 33 426 264 17 0 761
STK11 54 15 308 354 16 0 719
PTEN 151 53 215 214 9 0 637
POLE 2 0 217 407 27 0 634
TSC2 24 4 256 290 38 0 611
MRE11 36 20 389 155 10 0 602
BAP1 18 5 256 299 18 0 582
RAD51C 38 32 304 173 9 0 538
DICER1 89 3 207 176 10 0 485
BMPR1A 51 14 253 173 13 0 484
RAD51D, RAD51L3-RFFL 35 21 257 180 10 0 484
POLD1 2 0 163 270 24 0 442
SMAD4 33 5 145 192 6 0 377
CDKN2A 31 23 173 69 14 0 291
RET 17 1 144 99 15 0 274
MEN1 79 32 61 55 4 0 230
PTCH1 31 7 73 85 21 0 217
TSC1 11 1 100 86 18 0 216
SDHA 17 11 98 63 25 0 214
FLCN 58 3 77 56 4 0 198
MET 3 0 112 68 13 0 194
RAD50, TH2-LCR, TH2LCRR 14 11 111 29 4 0 168
RB1 88 20 37 21 2 0 168
FH 32 34 70 26 6 0 166
BLM 9 1 78 65 10 0 161
SDHB 52 27 50 28 6 0 161
CTNNA1 0 1 1 97 0 0 99
GALNT12 0 0 46 38 7 0 91
CDK4 1 0 53 33 1 0 87
HOXB13 0 1 59 22 2 0 84
VHL 19 9 31 18 3 0 80
SDHD 20 11 25 10 4 0 70
RAD50, TH2LCRR 3 2 52 12 1 0 69
LOC107303340, VHL 26 11 18 11 0 0 65
TMEM127 5 1 27 20 2 0 55
ALK 0 0 17 11 23 0 51
CDK4, TSPAN31 0 0 31 15 1 0 47
POT1 0 0 26 15 5 0 46
SDHC 9 8 17 11 1 0 46
AIP 0 0 22 14 5 0 41
AOPEP, FANCC 2 1 19 15 4 0 41
RECQL 2 9 20 8 2 0 41
NF2 0 0 18 19 2 0 39
LOC100507346, PTCH1 6 0 11 16 5 0 38
CDKN1B 0 1 20 12 3 0 36
SDHAF2 1 2 21 12 0 0 36
XRCC2 2 1 13 19 2 0 36
MUTYH, TOE1 1 1 22 10 1 0 35
KLLN, PTEN 0 0 32 0 1 0 33
MAX 6 1 17 8 0 0 32
SUFU 0 0 16 11 5 0 32
ATR 0 0 4 25 1 0 30
FANCC 3 0 12 10 3 0 27
EPCAM 0 0 6 16 5 0 26
SMARCB1 1 0 9 14 2 0 26
SMARCE1 1 0 11 13 0 0 25
PRKAR1A 0 0 6 14 2 0 22
PIK3CA 0 0 8 13 0 0 21
PHOX2B 0 0 6 9 3 0 18
RAD51B 0 1 10 7 0 0 18
GEN1 0 0 2 15 0 0 17
ABRAXAS1 1 0 3 11 0 0 15
PPM1D 0 0 0 14 0 0 14
NBN, OSGIN2 0 1 6 4 0 0 10
PYROXD1, RECQL 0 0 10 0 0 0 10
LOC111811965, NF1 2 0 5 2 0 0 9
BRCC3 0 0 0 8 0 0 8
LOC110011216, PHOX2B 0 0 0 6 2 0 8
AXIN2 0 0 1 2 3 0 6
CHEK1 0 0 2 4 0 0 6
LOC100506321, MAX 2 1 1 1 0 0 5
BRIP1, LOC110120932 0 0 0 4 0 0 4
GREM1 0 0 1 3 0 0 4
LOC106736614, RET 0 0 4 0 0 0 4
BRCA1, LOC110485084, LOC111589216 0 0 0 3 0 0 3
BRCA2, LOC106721785 0 0 2 1 0 0 3
BRCA1, LOC111589215 0 0 0 2 0 0 2
CTNNA1, LOC105379194 0 0 0 2 0 0 2
CTNNA1, LRRTM2 0 0 0 2 0 0 2
EPCAM, MSH2 2 0 0 0 0 0 2
FAM20A, PRKAR1A 0 0 0 2 0 0 2
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 1
BRCA1, LOC110485084 0 0 0 1 0 0 1
CBR4, PALLD 0 0 0 0 1 0 1
CRAMP1, EME2, FAHD1, GFER, HAGH, HS3ST6, IFT140, IGFALS, JPT2, MAPK8IP3, MEIOB, MRPS34, MSRB1, NDUFB10, NME3, NOXO1, NPW, NTHL1, NUBP2, RNF151, RPL3L, RPS2, SLC9A3R2, SNHG9, SPSB3, SYNGR3, TBL3, TMEM204, TSC2, ZNF598 0 0 1 0 0 0 1
ERCC4 0 0 0 1 0 0 1
EXT2 1 0 0 0 0 0 1
GOLT1B, RECQL 0 0 0 1 0 0 1
HFE 1 0 0 0 0 0 1
KIF1B 0 0 0 0 1 0 1
LOC110006317, LOC110006318, STK11 1 0 0 0 0 0 1
MITF 1 1 0 0 0 0 1
MPZ, SDHC 0 0 0 0 1 0 1
MSR1 1 0 0 0 0 0 1
NTHL1 1 0 0 0 0 0 1
PDGFRA 0 0 0 1 0 0 1
PRSS1, TRB 0 0 0 1 0 0 1
RECQL4 0 0 0 0 1 0 1
SLX4 0 0 0 1 0 0 1
TP53, WRAP53 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Ambry Genetics 4810 1102 17271 9482 951 0 33616
Color 1545 338 9256 7347 827 0 19311
Invitae 119 34 799 62 4 0 1017
University of Washington Department of Laboratory Medicine, University of Washington 39 15 34 693 0 0 781
True Health Diagnostics 23 5 142 373 45 1 589
GeneKor MSA 61 25 407 17 0 1 511
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 16 1 34 98 0 0 149
Mendelics 20 17 87 12 2 0 138
Vantari Genetics 7 0 17 34 58 0 116
GeneDx 41 1 9 2 51 0 104
Academic Department of Medical Genetics, University of Cambridge 21 23 1 0 0 0 45
Illumina Clinical Services Laboratory,Illumina 0 0 9 23 3 0 35
Department of Molecular Diagnostics,Institute of Oncology 1 11 0 0 0 0 12
Integrated Genetics/Laboratory Corporation of America 4 6 0 0 0 0 10
GeneID Lab - Advanced Molecular Diagnostics 0 1 4 0 0 0 5
Center of Medical Genetics and Primary Health Care 0 0 2 0 0 0 2
Clinical Molecular Diagnostic Laboratory,City of Hope National Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Lab,GoPath Laboratories 1 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 1 0 0 0 1
Cure Brain Cancer Foundation Neuro-Oncology Group, Adult Cancer Program,University of New South Wales 0 1 0 0 0 0 1

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