ClinVar Miner

Variants with conflicting interpretations studied for Hereditary cancer

Coded as:
Minimum review status of the submission for Hereditary cancer: Collection method of the submission for Hereditary cancer:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
72 55 0 65 288 1 6 298

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Hereditary cancer pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 1 0 0 0 0 0
likely pathogenic 2 0 0 0 0 0 0
uncertain significance 1 2 0 12 7 1 1
likely benign 3 1 274 0 62 0 0

Condition to condition summary #

Total conditions: 96
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
not provided 0 56 0 24 251 1 4 260
not specified 0 64 0 42 148 0 1 164
Breast and/or ovarian cancer 0 17 0 0 22 0 0 22
Hereditary nonpolyposis colorectal neoplasms 0 18 0 16 4 0 1 21
ATM-related disorder 0 6 0 0 8 0 0 8
EGFR-related lung cancer 0 11 0 0 8 0 0 8
POLE-related disorder 0 6 0 0 6 0 0 6
APC-related disorder 0 2 0 0 5 0 0 5
MSH2-related disorder 0 0 0 0 5 0 0 5
APC-Associated Polyposis Disorders 0 2 0 0 3 0 0 3
BAP1-related disorder 0 1 0 0 3 0 0 3
BARD1-related disorder 0 0 0 0 3 0 0 3
BRCA2-related disorder 0 2 0 0 3 0 0 3
CHEK2-related disorder 0 1 0 0 3 0 0 3
EGFR-related disorder 0 1 0 0 3 0 0 3
Hirschsprung disease, susceptibility to, 1 0 1 0 0 3 0 0 3
MET-related disorder 0 3 0 1 2 0 0 3
NBN-related disorder 0 2 0 0 3 0 0 3
PALB2-related disorder 0 1 0 0 3 0 0 3
PMS2-related disorder 0 2 0 0 3 0 0 3
Cardiovascular phenotype 0 0 0 0 2 0 1 2
FANCC-related disorder 0 1 0 0 2 0 0 2
Inherited breast cancer and ovarian cancer 0 1 0 0 2 0 0 2
MLH1-related disorder 0 0 0 0 2 0 0 2
MUTYH-related disorder 0 1 0 0 2 0 0 2
PDGFRA-related disorder 0 0 0 1 1 0 0 2
POLD1-related disorder 0 1 0 0 2 0 0 2
Predisposition to cancer 0 0 0 0 2 0 0 2
See cases 0 1 0 0 2 0 1 2
11p13p14 deletion 0 0 0 0 0 0 1 1
16p12.3p13.12 deletion 0 0 0 0 0 0 1 1
16p13.1 duplication 0 0 0 0 0 0 1 1
16p13.11 recurrent microdeletion syndrome 0 0 0 0 0 0 1 1
16p13.2-p13.13 microduplication syndrome 0 0 0 0 0 0 1 1
1p13.3 deletion syndrome 0 0 0 0 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 0 0 0 1 1
22q13.3 interstitial deletion 0 0 0 0 0 0 1 1
3p25.3p26.3 deletion 0 0 0 0 0 0 1 1
6q14.1q15 deletion 0 0 0 0 0 0 1 1
Abnormal bleeding 0 0 0 0 0 0 1 1
Aminoaciduria 0 0 0 0 0 0 1 1
Anophthalmia-microphthalmia syndrome 0 0 0 0 0 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 0 0 0 1 1
Autistic behavior; Severe global developmental delay 0 0 0 0 0 0 1 1
BLM-related disorder 0 2 0 0 1 0 0 1
Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 0 0 0 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 0 0 0 1 0 0 0 1
CDH1-related disorder 0 0 0 0 1 0 0 1
Colorectal cancer, non-polyposis 0 1 0 0 1 0 0 1
Colorectal cancer, susceptibility to 0 1 0 0 1 0 0 1
Deep venous thrombosis 0 0 0 0 0 0 1 1
Delayed speech and language development 0 0 0 0 0 0 1 1
Elevated circulating creatine kinase concentration 0 0 0 0 0 0 1 1
Epileptic encephalopathy 0 0 0 0 0 0 1 1
FANCL-related disorder 0 0 0 0 1 0 0 1
Focal-onset seizure 0 0 0 0 0 0 1 1
GIGYF1-related neurodevelopmental disorder 0 0 0 0 0 0 1 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 0 0 0 1 1
Global developmental delay 0 0 0 0 1 0 1 1
Global developmental delay; Expressive language delay; Secondary microcephaly 0 0 0 0 0 0 1 1
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 0 2 0 0 1 0 0 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47 0 0 0 0 0 0 1 1
Inherited Immunodeficiency Diseases 0 0 0 0 0 0 1 1
Inherited polyposis and early onset colorectal cancer - germline testing 0 1 0 0 1 0 0 1
Interstitial 6q microdeletion syndrome 0 0 0 0 0 0 1 1
Leukemia, acute lymphoblastic, susceptibility to 0 0 0 0 0 0 1 1
Lynch-like syndrome 0 0 0 0 1 0 0 1
MBD5 associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
MRE11-related disorder 0 0 0 0 1 0 0 1
MSH6-related disorder 0 2 0 0 1 0 0 1
Marfanoid habitus and intellectual disability 0 0 0 0 0 0 1 1
Mild intellectual disability 0 0 0 0 0 0 1 1
Muscle dystrophy 0 0 0 0 0 0 1 1
NF1-related disorder 0 2 0 0 1 0 0 1
Neoplasm of the liver 0 0 0 0 1 0 0 1
PPFIA3-related disorder 0 0 0 0 0 0 1 1
PRKAR1A-related disorder 0 0 0 0 1 0 0 1
PTEN-related disorder 0 1 0 1 0 0 0 1
Pediatric metastatic thyroid tumour 0 0 0 0 0 0 1 1
Prostate cancer susceptibility 0 0 0 0 0 0 1 1
RAD51-related disorder 0 1 0 0 1 0 0 1
RAD51D-related disorder 0 3 0 0 1 0 0 1
RECQL-related disorder 0 1 0 0 1 0 0 1
RET-related disorder 0 0 0 0 1 0 0 1
RHD DEL 0 0 0 0 0 0 1 1
Renal transitional cell carcinoma 0 0 0 0 0 0 1 1
SAMD9L-related disorder 0 0 0 0 1 0 0 1
SLC4A10-related neurodevelopmental disorder 0 0 0 0 0 0 1 1
STK11-related disorder 0 0 0 0 1 0 0 1
Seizure 0 1 0 0 0 0 1 1
Severe intellectual disability 0 0 0 0 0 0 1 1
Spastic paraplegia 0 0 0 0 0 0 1 1
Spinocerebellar ataxia, X-linked 0 0 0 0 0 1 0 1
Splenomegaly; Decreased circulating immunoglobulin concentration 0 0 0 0 0 0 1 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 0 0 1 1
Triple-Negative Breast Cancer Finding 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 298
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) rs486907 0.28062
NM_006206.6(PDGFRA):c.2323+1120C>T rs2291591 0.08547
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00668
NM_000179.3(MSH6):c.*85T>A rs2020906 0.00645
NM_000222.3(KIT):c.2597-51T>C rs368272654 0.00263
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter) rs150070697 0.00229
NM_014967.5(FAN1):c.149T>G (p.Met50Arg) rs148404807 0.00191
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00158
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00154
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00149
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00127
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00117
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00116
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00115
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00104
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00063
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093 0.00062
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00061
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00057
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00057
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_002907.4(RECQL):c.406G>A (p.Val136Ile) rs138278747 0.00055
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00054
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00051
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00051
NM_020975.6(RET):c.405C>T (p.Gly135=) rs142345108 0.00051
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) rs150306543 0.00049
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00048
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_004972.4(JAK2):c.1711G>A (p.Gly571Ser) rs139504737 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu) rs139557480 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu) rs146875699 0.00044
NM_133510.4(RAD51B):c.1036+5G>A rs148518198 0.00044
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917 0.00042
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681 0.00040
NM_007294.4(BRCA1):c.301+146A>C rs571713225 0.00039
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529 0.00035
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00033
NM_006206.6(PDGFRA):c.2306A>T (p.Lys769Met) rs373061721 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_002529.4(NTRK1):c.482G>A (p.Arg161His) rs150271893 0.00031
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00029
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251 0.00029
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00027
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00027
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys) rs137994522 0.00027
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237 0.00025
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00025
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) rs41274468 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00021
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp) rs116057045 0.00019
NM_000038.6(APC):c.6637A>G (p.Met2213Val) rs186926737 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 0.00017
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00016
NM_000245.4(MET):c.40C>T (p.Leu14Phe) rs763344951 0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val) rs146077019 0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile) rs143152888 0.00014
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00013
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_005228.5(EGFR):c.2885G>A (p.Arg962His) rs144496976 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_002907.4(RECQL):c.468T>G (p.Ile156Met) rs777214281 0.00011
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858 0.00011
NM_004656.4(BAP1):c.1946G>A (p.Cys649Tyr) rs151308667 0.00011
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00009
NM_002691.4(POLD1):c.3271G>A (p.Asp1091Asn) rs946088822 0.00009
NM_002875.5(RAD51):c.671C>G (p.Ala224Gly) rs142701178 0.00009
NM_017654.4(SAMD9):c.1828A>G (p.Ser610Gly) rs367869345 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840 0.00007
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr) rs187203579 0.00007
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00006
NM_001143992.2(WRAP53):c.915G>A (p.Thr305=) rs200147473 0.00006
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) rs770250516 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly) rs111539978 0.00006
NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln) rs530233908 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889 0.00005
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000245.4(MET):c.100G>A (p.Glu34Lys) rs764246939 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00005
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919 0.00005
NM_000465.4(BARD1):c.-4G>A rs761863671 0.00005
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00005
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His) rs377502779 0.00005
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000546.6(TP53):c.787A>G (p.Asn263Asp) rs72661119 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00004
NM_000038.6(APC):c.3205A>G (p.Arg1069Gly) rs375408871 0.00003
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066 0.00003
NM_005228.5(EGFR):c.739G>A (p.Asp247Asn) rs780001754 0.00003
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507 0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) rs200956659 0.00003
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu) rs551183536 0.00002
NM_000038.6(APC):c.7495G>C (p.Val2499Leu) rs33941929 0.00002
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys) rs587783036 0.00002
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00002
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439 0.00002
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys) rs587776466 0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr) rs587780687 0.00002
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly) rs199792522 0.00002
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys) rs773596817 0.00002
NM_020207.7(ERCC6L2):c.599T>C (p.Phe200Ser) rs61748989 0.00002
NM_020975.6(RET):c.1678C>T (p.Pro560Ser) rs748852160 0.00002
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_000038.6(APC):c.1580G>C (p.Arg527Thr) rs1554081889 0.00001
NM_000038.6(APC):c.1925T>C (p.Val642Ala) rs759528091 0.00001
NM_000038.6(APC):c.2642C>T (p.Ser881Phe) rs535344579 0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) rs587779796 0.00001
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg) rs754395517 0.00001
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr) rs397507350 0.00001
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377 0.00001
NM_000059.4(BRCA2):c.7394C>T (p.Ala2465Val) rs80358960 0.00001
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) rs786204274 0.00001
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071 0.00001
NM_000179.3(MSH6):c.2107A>G (p.Met703Val) rs751867550 0.00001
NM_000179.3(MSH6):c.4064C>G (p.Thr1355Ser) rs863224627 0.00001
NM_000179.3(MSH6):c.494T>G (p.Phe165Cys) rs763841886 0.00001
NM_000245.4(MET):c.2102+7T>C rs1584941903 0.00001
NM_000245.4(MET):c.305G>A (p.Ser102Asn) rs779897466 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr) rs111481152 0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032 0.00001
NM_000465.4(BARD1):c.1508A>G (p.Lys503Arg) rs775002804 0.00001
NM_000465.4(BARD1):c.2002-12T>G rs587780027 0.00001
NM_000546.6(TP53):c.642T>G (p.His214Gln) rs587781386 0.00001
NM_002691.4(POLD1):c.224T>C (p.Ile75Thr) rs878854534 0.00001
NM_002907.4(RECQL):c.501+3A>G rs929469507 0.00001
NM_004360.5(CDH1):c.254T>C (p.Val85Ala) rs878854688 0.00001
NM_004656.4(BAP1):c.1166G>A (p.Arg389His) rs770778299 0.00001
NM_004656.4(BAP1):c.1421C>T (p.Pro474Leu) rs770422186 0.00001
NM_004656.4(BAP1):c.1769A>T (p.Gln590Leu) rs756472919 0.00001
NM_005228.5(EGFR):c.869C>T (p.Thr290Ile) rs1020654485 0.00001
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) rs985504177 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp) rs866548835 0.00001
NM_016222.4(DDX41):c.968G>A (p.Arg323His) rs1248764875 0.00001
NM_017849.4(TMEM127):c.556G>C (p.Ala186Pro) rs764012422 0.00001
NM_020975.6(RET):c.2342A>G (p.Gln781Arg) rs377767416 0.00001
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) rs370908330 0.00001
NM_024675.4(PALB2):c.560C>A (p.Pro187His) rs371582757 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.7391C>G (p.Ser2464Cys) rs766473931
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys) rs764488484
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys) rs730881600
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val) rs786202701
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val) rs980859921
NM_000059.4(BRCA2):c.6764C>T (p.Thr2255Ile) rs2137530514
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.4(BRCA2):c.8633-4T>A rs397507407
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg) rs587782779
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000179.3(MSH6):c.1420G>C (p.Val474Leu) rs1558661621
NM_000179.3(MSH6):c.236C>T (p.Ser79Leu) rs1428717797
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp) rs864622397
NM_000179.3(MSH6):c.818G>T (p.Gly273Val) rs769610487
NM_000245.4(MET):c.465G>T (p.Gln155His) rs863224695
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000251.3(MSH2):c.1946C>T (p.Ala649Val) rs876659816
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000314.6(PTEN):c.-868G>C rs587782133
NM_000314.8(PTEN):c.-513G>C rs546504608
NM_000314.8(PTEN):c.196A>T (p.Lys66Ter) rs1554897271
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000455.5(STK11):c.863-5_863-3del rs764739106
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001100619.3(CABLES1):c.166C>T (p.Arg56Cys)
NM_001122630.2(CDKN1C):c.504CCCGGC[4] (p.168AP[9]) rs878853629
NM_001184.4(ATR):c.5739-11_5739-4del rs797045404
NM_002485.5(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_004655.4(AXIN2):c.1404CCA[5] (p.His474del) rs570443161
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del) rs776606194
NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg) rs1051476261
NM_006231.4(POLE):c.1520T>C (p.Val507Ala) rs904849438
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.5494C>T (p.Leu1832Phe) rs1456049352
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.4(BRCA1):c.135-5T>C rs587781916
NM_007294.4(BRCA1):c.1773A>G (p.Ile591Met) rs1555591259
NM_016507.4(CDK12):c.4340C>G (p.Thr1447Ser) rs767287779
NM_020937.4(FANCM):c.2678A>G (p.Asp893Gly) rs1023555775
NM_022124.6(CDH23):c.6433G>A (p.Val2145Met) rs780523589
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys) rs878855097
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser) rs730881889
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys) rs758851721
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala) rs370212314
Single allele

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