ClinVar genetic disease variations for Colorectal Cancer 10:
6
(show top 50)
(show all 1799)
# |
Gene |
Name |
Type |
Significance |
ClinVarId |
dbSNP ID |
GRCh37 Pos |
GRCh38 Pos |
1 |
POLD1 |
NM_002691.4(POLD1):c.1809_1811CTC[1] (p.Ser605del) |
Microsatellite |
Pathogenic |
60775 |
rs398122386 |
19:50912075-50912077 |
19:50408818-50408820 |
2 |
POLD1 |
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) |
SNV |
Pathogenic/Likely pathogenic |
40044 |
rs397514632 |
19:50909713-50909713 |
19:50406456-50406456 |
3 |
POLD1 |
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) |
SNV |
Likely pathogenic |
144003 |
rs587777627 |
19:50909701-50909701 |
19:50406444-50406444 |
4 |
POLD1 |
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) |
SNV |
Conflicting interpretations of pathogenicity |
221136 |
rs41554817 |
19:50905989-50905989 |
19:50402732-50402732 |
5 |
POLD1 |
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) |
SNV |
Conflicting interpretations of pathogenicity |
239357 |
rs377690809 |
19:50905375-50905375 |
19:50402118-50402118 |
6 |
POLD1 |
NM_002691.4(POLD1):c.2433C>T (p.Gly811=) |
SNV |
Conflicting interpretations of pathogenicity |
469261 |
rs1051057675 |
19:50918116-50918116 |
19:50414859-50414859 |
7 |
POLD1 |
NM_002691.4(POLD1):c.3120+6A>G |
SNV |
Conflicting interpretations of pathogenicity |
516980 |
rs1231856737 |
19:50920360-50920360 |
19:50417103-50417103 |
8 |
POLD1 |
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) |
SNV |
Conflicting interpretations of pathogenicity |
239348 |
rs41563714 |
19:50905173-50905173 |
19:50401916-50401916 |
9 |
POLD1 |
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) |
SNV |
Conflicting interpretations of pathogenicity |
220886 |
rs149569984 |
19:50912061-50912061 |
19:50408804-50408804 |
10 |
POLD1 |
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) |
SNV |
Conflicting interpretations of pathogenicity |
221038 |
rs145473716 |
19:50917023-50917023 |
19:50413766-50413766 |
11 |
POLD1 |
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) |
SNV |
Conflicting interpretations of pathogenicity |
225288 |
rs147911699 |
19:50902633-50902633 |
19:50399376-50399376 |
12 |
POLD1 |
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) |
SNV |
Conflicting interpretations of pathogenicity |
239269 |
rs144143245 |
19:50912821-50912821 |
19:50409564-50409564 |
13 |
POLD1 |
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys) |
SNV |
Conflicting interpretations of pathogenicity |
414765 |
rs368033860 |
19:50902163-50902163 |
19:50398906-50398906 |
14 |
POLD1 |
NM_002691.4(POLD1):c.1786G>A (p.Val596Ile) |
SNV |
Uncertain significance |
408030 |
rs773180520 |
19:50912052-50912052 |
19:50408795-50408795 |
15 |
POLD1 |
NM_002691.4(POLD1):c.3073G>A (p.Val1025Met) |
SNV |
Uncertain significance |
408116 |
rs1060501858 |
19:50920307-50920307 |
19:50417050-50417050 |
16 |
POLD1 |
NM_002691.4(POLD1):c.1371G>T (p.Met457Ile) |
SNV |
Uncertain significance |
469193 |
rs1457008478 |
19:50909567-50909567 |
19:50406310-50406310 |
17 |
POLD1 |
NM_002691.4(POLD1):c.269A>G (p.Gln90Arg) |
SNV |
Uncertain significance |
469286 |
rs778838312 |
19:50902694-50902694 |
19:50399437-50399437 |
18 |
POLD1 |
NM_002691.4(POLD1):c.358G>C (p.Gly120Arg) |
SNV |
Uncertain significance |
469346 |
rs746234949 |
19:50905076-50905076 |
19:50401819-50401819 |
19 |
POLD1 |
NM_002691.4(POLD1):c.758G>A (p.Arg253Gln) |
SNV |
Uncertain significance |
469383 |
rs1366413924 |
19:50905630-50905630 |
19:50402373-50402373 |
20 |
POLD1 |
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu) |
SNV |
Uncertain significance |
40045 |
rs397514633 |
19:50906319-50906319 |
19:50403062-50403062 |
21 |
POLD1 |
NM_002691.4(POLD1):c.520C>T (p.Arg174Trp) |
SNV |
Uncertain significance |
239351 |
rs749334182 |
19:50905312-50905312 |
19:50402055-50402055 |
22 |
POLD1 |
NM_002691.4(POLD1):c.224T>C (p.Ile75Thr) |
SNV |
Uncertain significance |
239277 |
rs878854534 |
19:50902649-50902649 |
19:50399392-50399392 |
23 |
POLD1 |
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr) |
SNV |
Uncertain significance |
408069 |
rs376197467 |
19:50919929-50919929 |
19:50416672-50416672 |
24 |
POLD1 |
NM_002691.4(POLD1):c.132G>A (p.Met44Ile) |
SNV |
Uncertain significance |
407954 |
rs757575448 |
19:50902240-50902240 |
19:50398983-50398983 |
25 |
POLD1 |
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) |
SNV |
Uncertain significance |
246171 |
rs747483140 |
19:50916706-50916706 |
19:50413449-50413449 |
26 |
POLD1 |
NM_002691.4(POLD1):c.2972G>A (p.Cys991Tyr) |
SNV |
Uncertain significance |
619714 |
rs775264944 |
19:50919885-50919885 |
19:50416628-50416628 |
27 |
POLD1 |
NM_002691.4(POLD1):c.1775+6del |
Deletion |
Uncertain significance |
537154 |
rs1555791538 |
19:50910677-50910677 |
19:50407420-50407420 |
28 |
POLD1 |
NM_002691.4(POLD1):c.3068-3C>T |
SNV |
Uncertain significance |
537169 |
rs1555793559 |
19:50920299-50920299 |
19:50417042-50417042 |
29 |
POLD1 |
NM_002691.4(POLD1):c.1686+3C>T |
SNV |
Uncertain significance |
537170 |
rs1555791459 |
19:50910434-50910434 |
19:50407177-50407177 |
30 |
POLD1 |
NM_002691.4(POLD1):c.49C>T (p.Arg17Trp) |
SNV |
Uncertain significance |
408109 |
rs570461545 |
19:50902157-50902157 |
19:50398900-50398900 |
31 |
POLD1 |
NM_002691.4(POLD1):c.3136G>T (p.Ala1046Ser) |
SNV |
Uncertain significance |
407978 |
rs751088347 |
19:50920444-50920444 |
19:50417187-50417187 |
32 |
POLD1 |
NM_002691.4(POLD1):c.530G>A (p.Arg177His) |
SNV |
Uncertain significance |
469360 |
rs3218750 |
19:50905322-50905322 |
19:50402065-50402065 |
33 |
POLD1 |
NM_002691.4(POLD1):c.584G>A (p.Arg195Gln) |
SNV |
Uncertain significance |
469368 |
rs1555789938 |
19:50905376-50905376 |
19:50402119-50402119 |
34 |
POLD1 |
NM_002691.4(POLD1):c.1681C>T (p.Arg561Trp) |
SNV |
Uncertain significance |
469212 |
rs368738479 |
19:50910426-50910426 |
19:50407169-50407169 |
35 |
POLD1 |
NM_002691.4(POLD1):c.241C>T (p.Arg81Trp) |
SNV |
Uncertain significance |
560820 |
rs752124373 |
19:50902666-50902666 |
19:50399409-50399409 |
36 |
POLD1 |
NM_002691.4(POLD1):c.866A>G (p.Asp289Gly) |
SNV |
Uncertain significance |
239371 |
rs878854558 |
19:50905894-50905894 |
19:50402637-50402637 |
37 |
POLD1 |
NM_002691.4(POLD1):c.1955G>A (p.Arg652Gln) |
SNV |
Uncertain significance |
239262 |
rs778037523 |
19:50912441-50912441 |
19:50409184-50409184 |
38 |
POLD1 |
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) |
SNV |
Uncertain significance |
239267 |
rs144707871 |
19:50902628-50902628 |
19:50399371-50399371 |
39 |
POLD1 |
NM_002691.4(POLD1):c.2797G>T (p.Val933Leu) |
SNV |
Uncertain significance |
469301 |
rs764785216 |
19:50919060-50919060 |
19:50415803-50415803 |
40 |
POLD1 |
NM_002691.4(POLD1):c.632G>A (p.Arg211His) |
SNV |
Uncertain significance |
439259 |
rs373192520 |
19:50905504-50905504 |
19:50402247-50402247 |
41 |
POLD1 |
NM_002691.4(POLD1):c.868G>A (p.Val290Met) |
SNV |
Uncertain significance |
505437 |
rs748657880 |
19:50905896-50905896 |
19:50402639-50402639 |
42 |
POLD1 |
NM_002691.4(POLD1):c.3023G>A (p.Arg1008His) |
SNV |
Uncertain significance |
517284 |
rs763747258 |
19:50919936-50919936 |
19:50416679-50416679 |
43 |
POLD1 |
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) |
SNV |
Uncertain significance |
239267 |
rs144707871 |
19:50902628-50902628 |
19:50399371-50399371 |
44 |
POLD1 |
NM_002691.4(POLD1):c.1735G>A (p.Glu579Lys) |
SNV |
Uncertain significance |
505438 |
rs1354117345 |
19:50910632-50910632 |
19:50407375-50407375 |
45 |
POLD1 |
NM_002691.4(POLD1):c.2154+2T>C |
SNV |
Uncertain significance |
505439 |
rs1555792026 |
19:50912925-50912925 |
19:50409668-50409668 |
46 |
POLD1 |
NM_002691.3(POLD1):c.589_589+1delAG |
Microsatellite |
Uncertain significance |
408043 |
rs1060501829 |
19:50905376-50905377 |
19:50402119-50402120 |
47 |
POLD1 |
NM_001256849.1(POLD1):c.2959dup (p.Asp987Glyfs) |
Duplication |
Uncertain significance |
537052 |
rs756872503 |
19:50919865-50919866 |
19:50416608-50416609 |
48 |
POLD1 |
NC_000019.10:g.50416615del |
Deletion |
Uncertain significance |
935838 |
|
19:50919866-50919866 |
19:50416609-50416609 |
49 |
POLD1 |
NM_002691.4(POLD1):c.3120+6_3120+21del |
Deletion |
Uncertain significance |
407973 |
rs1064792944 |
19:50920351-50920366 |
19:50417094-50417109 |
50 |
POLD1 |
NM_002691.4(POLD1):c.2807A>C (p.Tyr936Ser) |
SNV |
Uncertain significance |
569400 |
rs1568638877 |
19:50919070-50919070 |
19:50415813-50415813 |
UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer 10:
73
Cosmic variations for Colorectal Cancer 10:
9
(show top 50)
(show all 745)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM93183877 |
TP53 |
large intestine,colon,adenoma,NS
|
c.733G>A |
p.G245S |
17:7674230-7674230 |
3 |
2 |
COSM112254813 |
TP53 |
large intestine,rectum,other,ulcerative colitis
|
c.991C>T |
p.Q331* |
17:7673537-7673537 |
3 |
3 |
COSM121879912 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.338G>A |
p.G113D |
17:7674229-7674229 |
3 |
4 |
COSM144013587 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.700G>A |
p.G234S |
17:7674230-7674230 |
3 |
5 |
COSM142564162 |
TP53 |
large intestine,colon,adenoma,NS
|
c.524A>G |
p.H175R |
17:7674890-7674890 |
3 |
6 |
COSM144314088 |
TP53 |
large intestine,colon,adenoma,NS
|
c.-87A>C |
p.? |
17:7675221-7675221 |
3 |
7 |
COSM144651337 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.616G>A |
p.G206S |
17:7674230-7674230 |
3 |
8 |
COSM144104972 |
TP53 |
large intestine,colon,adenoma,NS
|
c.256G>C |
p.G86R |
17:7674230-7674230 |
3 |
9 |
COSM144654651 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.617G>A |
p.G206D |
17:7674229-7674229 |
3 |
10 |
COSM122567711 |
TP53 |
large intestine,colon,adenoma,NS
|
c.-6A>C |
p.? |
17:7675221-7675221 |
3 |
11 |
COSM144087932 |
TP53 |
large intestine,rectum,other,ulcerative colitis
|
c.514C>T |
p.Q172* |
17:7673537-7673537 |
3 |
12 |
COSM144014702 |
TP53 |
large intestine,rectum,other,ulcerative colitis
|
c.958C>T |
p.Q320* |
17:7673537-7673537 |
3 |
13 |
COSM121876212 |
TP53 |
large intestine,colon,adenoma,NS
|
c.337G>A |
p.G113S |
17:7674230-7674230 |
3 |
14 |
COSM143943997 |
TP53 |
large intestine,colon,adenoma,NS
|
c.256G>A |
p.G86S |
17:7674230-7674230 |
3 |
15 |
COSM145017865 |
TP53 |
large intestine,colon,adenoma,NS
|
c.616G>A |
p.G206S |
17:7674230-7674230 |
3 |
16 |
COSM143156960 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.256G>A |
p.G86S |
17:7674230-7674230 |
3 |
17 |
COSM106077247 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.523C>G |
p.R175G |
17:7675089-7675089 |
3 |
18 |
COSM111758775 |
TP53 |
large intestine,colon,adenoma,NS
|
c.733G>A |
p.G245S |
17:7674230-7674230 |
3 |
19 |
COSM145021980 |
TP53 |
large intestine,colon,adenoma,NS
|
c.524A>G |
p.H175R |
17:7674890-7674890 |
3 |
20 |
COSM106455733 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.853G>C |
p.E285Q |
17:7673767-7673767 |
3 |
21 |
COSM112253807 |
TP53 |
large intestine,colon,adenoma,NS
|
c.733G>A |
p.G245S |
17:7674230-7674230 |
3 |
22 |
COSM121902539 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.127C>G |
p.R43G |
17:7675089-7675089 |
3 |
23 |
COSM145282365 |
TP53 |
large intestine,colon,adenoma,NS
|
c.274A>C |
p.N92H |
17:7675221-7675221 |
3 |
24 |
COSM144947428 |
TP53 |
large intestine,colon,adenoma,NS
|
c.274A>C |
p.N92H |
17:7675221-7675221 |
3 |
25 |
COSM122271749 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.337G>A |
p.G113S |
17:7674230-7674230 |
3 |
26 |
COSM142560476 |
TP53 |
large intestine,colon,adenoma,NS
|
c.616G>A |
p.G206S |
17:7674230-7674230 |
3 |
27 |
COSM144106262 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.46C>G |
p.R16G |
17:7675089-7675089 |
3 |
28 |
COSM142559914 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.407G>A |
p.R136H |
17:7675088-7675088 |
3 |
29 |
COSM142855508 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.523C>G |
p.R175G |
17:7675089-7675089 |
3 |
30 |
COSM122759329 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.127C>G |
p.R43G |
17:7675089-7675089 |
3 |
31 |
COSM93184097 |
TP53 |
large intestine,colon,adenoma,NS
|
c.916C>T |
p.R306* |
17:7673704-7673704 |
3 |
32 |
COSM144351508 |
TP53 |
large intestine,colon,adenoma,NS
|
c.820G>C |
p.E274Q |
17:7673767-7673767 |
3 |
33 |
COSM143162350 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.-46G>C |
p.? |
17:7675180-7675180 |
3 |
34 |
COSM122291262 |
TP53 |
large intestine,colon,adenoma,NS
|
c.457G>C |
p.E153Q |
17:7673767-7673767 |
3 |
35 |
COSM121881087 |
TP53 |
large intestine,colon,adenoma,NS
|
c.245A>G |
p.H82R |
17:7674890-7674890 |
3 |
36 |
COSM143371076 |
TP53 |
large intestine,colon,adenoma,NS
|
c.616G>A |
p.G206S |
17:7674230-7674230 |
3 |
37 |
COSM142837497 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.733G>A |
p.G245S |
17:7674230-7674230 |
3 |
38 |
COSM122735329 |
TP53 |
large intestine,rectum,other,ulcerative colitis
|
c.595C>T |
p.Q199* |
17:7673537-7673537 |
3 |
39 |
COSM93183307 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.524G>A |
p.R175H |
17:7675088-7675088 |
3 |
40 |
COSM143946806 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.257G>A |
p.G86D |
17:7674229-7674229 |
3 |
41 |
COSM143175784 |
TP53 |
large intestine,colon,adenoma,NS
|
c.256G>C |
p.G86R |
17:7674230-7674230 |
3 |
42 |
COSM87925845 |
TP53 |
large intestine,colon,adenoma,NS
|
c.733G>C |
p.G245R |
17:7674230-7674230 |
3 |
43 |
COSM144329826 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.406C>G |
p.R136G |
17:7675089-7675089 |
3 |
44 |
COSM87902864 |
TP53 |
large intestine,colon,adenoma,NS
|
c.641A>G |
p.H214R |
17:7674890-7674890 |
3 |
45 |
COSM142854442 |
TP53 |
large intestine,colon,adenoma,NS
|
c.733G>C |
p.G245R |
17:7674230-7674230 |
3 |
46 |
COSM122734486 |
TP53 |
large intestine,colon,adenoma,NS
|
c.520C>T |
p.R174* |
17:7673704-7673704 |
3 |
47 |
COSM93566065 |
TP53 |
large intestine,colon,adenoma,NS
|
c.853G>C |
p.E285Q |
17:7673767-7673767 |
3 |
48 |
COSM122271907 |
TP53 |
large intestine,colon,adenoma,NS
|
c.520C>T |
p.R174* |
17:7673704-7673704 |
3 |
49 |
COSM144016541 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.701G>A |
p.G234D |
17:7674229-7674229 |
3 |
50 |
COSM143210532 |
TP53 |
large intestine,colon,adenoma,NS
|
c.853G>C |
p.E285Q |
17:7673767-7673767 |
3 |
|