6
(show top 50)
(show all 1333)
# |
Gene |
Name |
Type |
Significance |
ClinVarId |
dbSNP ID |
GRCh37 Pos |
GRCh38 Pos |
1 |
BMPR1A |
NC_000010.11:g.(?_86838865)_(86900126_?)del | ‎‎
deletion |
Pathogenic |
417562 |
|
10:88598622-88659883 |
10:86838865-86900126 |
2 |
BMPR1A |
NM_004329.2(BMPR1A):c.934del (p.His312fs) | ‎‎
deletion |
Pathogenic |
411641 |
rs1060503408 |
10:88678993-88678993 |
10:86919236-86919236 |
3 |
BMPR1A |
NM_004329.2(BMPR1A):c.947_948CT[1] (p.Leu317fs) | ‎‎
short repeat |
Pathogenic |
411642 |
rs1060503409 |
10:88679006-88679009 |
10:86919249-86919252 |
4 |
BMPR1A |
NM_004329.2(BMPR1A):c.213_228del (p.Ala71_Ile72insTer) | ‎‎
deletion |
Pathogenic |
411600 |
rs1064792985 |
10:88649960-88649975 |
10:86890203-86890218 |
5 |
BMPR1A |
NM_004329.2(BMPR1A):c.917_920dup (p.Ile308fs) | ‎‎
duplication |
Pathogenic |
411629 |
rs1554891032 |
10:88678975-88678976 |
10:86919218-86919219 |
6 |
SMAD4 |
NM_005359.6(SMAD4):c.1198del (p.Arg400fs) | ‎‎
deletion |
Pathogenic |
405491 |
rs1060500734 |
18:48593447-48593447 |
18:51067077-51067077 |
7 |
SMAD4 |
NM_005359.6(SMAD4):c.1529del (p.Gly510fs) | ‎‎
deletion |
Pathogenic |
405502 |
rs1060500744 |
18:48604704-48604704 |
18:51078334-51078334 |
8 |
SMAD4 |
NM_005359.5(SMAD4):c.263_267delAAGGA (p.Lys88Ilefs) | ‎‎
deletion |
Pathogenic |
405496 |
rs1060500739 |
18:48575066-48575070 |
18:51048696-51048700 |
9 |
SMAD4 |
NC_000018.10:g.(?_51067019)_(51085042_?)del | ‎‎
deletion |
Pathogenic |
417583 |
|
18:48593389-48611412 |
18:51067019-51085042 |
10 |
SMAD4 |
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) | ‎‎
deletion |
Pathogenic |
405500 |
rs1060500742 |
18:48584551-48584558 |
18:51058181-51058188 |
11 |
SMAD4 |
NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) | ‎‎
SNV |
Pathogenic |
405490 |
rs1060500733 |
18:48591933-48591933 |
18:51065563-51065563 |
12 |
BMPR1A |
NM_004329.2(BMPR1A):c.730C>T (p.Arg244Ter) | ‎‎
SNV |
Pathogenic |
421656 |
rs759363072 |
10:88676945-88676945 |
10:86917188-86917188 |
13 |
BMPR1A |
NM_004329.2(BMPR1A):c.441_458delinsGA (p.Phe147fs) | ‎‎
indel |
Pathogenic |
429100 |
rs1131691179 |
10:88659794-88659811 |
10:86900037-86900054 |
14 |
BMPR1A |
NM_004329.2(BMPR1A):c.578dup (p.Leu193fs) | ‎‎
duplication |
Pathogenic |
460506 |
rs1554890219 |
10:88672041-88672042 |
10:86912284-86912285 |
15 |
BMPR1A |
NM_004329.2(BMPR1A):c.834C>A (p.Tyr278Ter) | ‎‎
SNV |
Pathogenic |
460512 |
rs1230919713 |
10:88677049-88677049 |
10:86917292-86917292 |
16 |
BMPR1A |
NM_004329.2(BMPR1A):c.567C>A (p.Tyr189Ter) | ‎‎
SNV |
Pathogenic |
460505 |
rs1554890213 |
10:88672033-88672033 |
10:86912276-86912276 |
17 |
BMPR1A |
NM_004329.2(BMPR1A):c.957dup (p.Phe320fs) | ‎‎
duplication |
Pathogenic |
460517 |
rs1554891043 |
10:88679016-88679017 |
10:86919259-86919260 |
18 |
SMAD4 |
NC_000018.9:g.(?_48573411)_(48604843_?)del | ‎‎
deletion |
Pathogenic |
460460 |
|
18:48573411-48604843 |
|
19 |
SMAD4 |
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) | ‎‎
SNV |
Pathogenic |
460552 |
rs1555685624 |
18:48581157-48581157 |
18:51054787-51054787 |
20 |
SMAD4 |
NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer) | ‎‎
deletion |
Pathogenic |
460529 |
rs1555686600 |
18:48593415-48593416 |
18:51067045-51067046 |
21 |
SMAD4 |
NM_005359.6(SMAD4):c.1138del (p.Arg380fs) | ‎‎
deletion |
Pathogenic |
460526 |
rs1555686506 |
18:48591974-48591974 |
18:51065604-51065604 |
22 |
SMAD4 |
NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs) | ‎‎
deletion |
Pathogenic |
460532 |
rs1555686608 |
18:48593476-48593477 |
18:51067106-51067107 |
23 |
SMAD4 |
NC_000018.10:g.(?_51065417)_(51067193_?)del | ‎‎
deletion |
Pathogenic |
460469 |
|
|
18:51065417-51067193 |
24 |
BMPR1A |
NM_004329.2(BMPR1A):c.1360C>T (p.Gln454Ter) | ‎‎
SNV |
Pathogenic |
486794 |
rs1554891570 |
10:88683150-88683150 |
10:86923393-86923393 |
25 |
SMAD4 |
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) | ‎‎
deletion |
Pathogenic |
486447 |
rs1555686469 |
18:48591859-48591859 |
18:51065489-51065489 |
26 |
BMPR1A |
NM_004329.2(BMPR1A):c.44_47del (p.Leu15fs) | ‎‎
deletion |
Pathogenic |
529908 |
rs1554886816 |
10:88635817-88635820 |
10:86876060-86876063 |
27 |
BMPR1A |
NM_004329.2(BMPR1A):c.731dup (p.Tyr245fs) | ‎‎
duplication |
Pathogenic |
529921 |
rs1554890759 |
10:88676945-88676946 |
10:86917188-86917189 |
28 |
BMPR1A |
NM_004329.2(BMPR1A):c.910C>T (p.Gln304Ter) | ‎‎
SNV |
Pathogenic |
529903 |
rs1404557708 |
10:88678970-88678970 |
10:86919213-86919213 |
29 |
BMPR1A |
NM_004329.2(BMPR1A):c.366_384del (p.Glu123fs) | ‎‎
deletion |
Pathogenic |
529927 |
rs1554888970 |
10:88659579-88659597 |
10:86899822-86899840 |
30 |
BMPR1A |
NM_004329.2(BMPR1A):c.419del (p.Pro140fs) | ‎‎
deletion |
Pathogenic |
529904 |
rs1554888986 |
10:88659632-88659632 |
10:86899875-86899875 |
31 |
BMPR1A |
NM_004329.2(BMPR1A):c.864dup (p.Leu289fs) | ‎‎
duplication |
Pathogenic |
529920 |
rs1554890815 |
10:88677078-88677079 |
10:86917321-86917322 |
32 |
SMAD4 |
NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter) | ‎‎
SNV |
Pathogenic |
529907 |
rs1555687378 |
18:48603023-48603023 |
18:51076653-51076653 |
33 |
SMAD4 |
NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs) | ‎‎
duplication |
Pathogenic |
529945 |
rs1555687386 |
18:48603104-48603105 |
18:51076734-51076735 |
34 |
SMAD4 |
NM_005359.6(SMAD4):c.1409del (p.Pro470fs) | ‎‎
deletion |
Pathogenic |
529954 |
rs1555687387 |
18:48603106-48603106 |
18:51076736-51076736 |
35 |
SMAD4 |
NM_005359.5(SMAD4):c.1134_1135delAG (p.Arg378Serfs) | ‎‎
short repeat |
Pathogenic |
545822 |
rs1555686503 |
18:48591966-48591967 |
18:51065596-51065597 |
36 |
SMAD4 |
NM_005359.6(SMAD4):c.1308+2T>C | ‎‎
SNV |
Pathogenic |
548563 |
rs1555686624 |
18:48593559-48593559 |
18:51067189-51067189 |
37 |
BMPR1A |
NM_004329.2(BMPR1A):c.-547_-268+1del | ‎‎
deletion |
Pathogenic |
571700 |
rs1564673999 |
10:88516395-88516675 |
10:86756638-86756918 |
38 |
BMPR1A |
NM_004329.2(BMPR1A):c.133_134del (p.Glu45fs) | ‎‎
deletion |
Pathogenic |
581321 |
rs1564714804 |
10:88649883-88649884 |
10:86890126-86890127 |
39 |
|
| ‎‎
deletion |
Pathogenic |
559459 |
|
|
|
40 |
BMPR1A |
NM_004329.2(BMPR1A):c.1314G>A (p.Trp438Ter) | ‎‎
SNV |
Pathogenic |
569831 |
rs1564725052 |
10:88681424-88681424 |
10:86921667-86921667 |
41 |
subset of 15 genes: BMPR1A , PTEN |
NC_000010.10:g.(?_88649809)_(89725239_?)del | ‎‎
deletion |
Pathogenic |
583733 |
|
10:88649809-89725239 |
|
42 |
BMPR1A |
NM_004329.2(BMPR1A):c.139G>T (p.Gly47Ter) | ‎‎
SNV |
Pathogenic |
567654 |
rs1564714809 |
10:88649890-88649890 |
10:86890133-86890133 |
43 |
BMPR1A |
NM_004329.2(BMPR1A):c.566dup (p.Tyr189Ter) | ‎‎
duplication |
Pathogenic |
571137 |
rs1564721929 |
10:88672031-88672032 |
10:86912274-86912275 |
44 |
BMPR1A |
NM_004329.2(BMPR1A):c.847dup (p.Met283fs) | ‎‎
duplication |
Pathogenic |
566699 |
rs1564723486 |
10:88677060-88677061 |
10:86917303-86917304 |
45 |
BMPR1A |
NM_004329.2(BMPR1A):c.1374C>A (p.Tyr458Ter) | ‎‎
SNV |
Pathogenic |
578684 |
rs1564725603 |
10:88683164-88683164 |
10:86923407-86923407 |
46 |
BMPR1A |
NC_000010.11:g.(?_86912230)_(86917336_?)del | ‎‎
deletion |
Pathogenic |
584294 |
|
10:88671987-88677093 |
10:86912230-86917336 |
47 |
BMPR1A |
NM_004329.2(BMPR1A):c.674del (p.Leu225fs) | ‎‎
deletion |
Pathogenic |
572096 |
rs1564722014 |
10:88672139-88672139 |
10:86912382-86912382 |
48 |
SMAD4 |
NC_000018.10:g.(?_51030213)_(51078477_?)del | ‎‎
deletion |
Pathogenic |
583710 |
|
18:48556583-48604847 |
18:51030213-51078477 |
49 |
SMAD4 |
NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs) | ‎‎
deletion |
Pathogenic |
572588 |
rs1568211187 |
18:48603040-48603064 |
18:51076670-51076694 |
50 |
SMAD4 |
NM_005359.6(SMAD4):c.939dup (p.Ile314fs) | ‎‎
duplication |
Pathogenic |
576856 |
rs1568206602 |
18:48586267-48586268 |
18:51059897-51059898 |
UniProtKB/Swiss-Prot genetic disease variations for Juvenile Polyposis Syndrome:
73
(show all 11)
Cosmic variations for Juvenile Polyposis Syndrome:
9
(show top 50)
(show all 748)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM87925845 |
TP53 |
large intestine,colon,adenoma,NS
|
c.733G>C |
p.G245R |
17:7674230-7674230 |
3 |
2 |
COSM87902864 |
TP53 |
large intestine,colon,adenoma,NS
|
c.641A>G |
p.H214R |
17:7674890-7674890 |
3 |
3 |
COSM88223016 |
TP53 |
large intestine,colon,adenoma,NS
|
c.391A>C |
p.N131H |
17:7675221-7675221 |
3 |
4 |
COSM87898578 |
TP53 |
large intestine,colon,adenoma,NS
|
c.733G>A |
p.G245S |
17:7674230-7674230 |
3 |
5 |
COSM88376117 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.853G>C |
p.E285Q |
17:7673767-7673767 |
3 |
6 |
COSM87906123 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.432G>C |
p.Q144H |
17:7675180-7675180 |
3 |
7 |
COSM87901765 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.734G>A |
p.G245D |
17:7674229-7674229 |
3 |
8 |
COSM87927805 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.523C>G |
p.R175G |
17:7675089-7675089 |
3 |
9 |
COSM87898818 |
TP53 |
large intestine,colon,adenoma,NS
|
c.916C>T |
p.R306* |
17:7673704-7673704 |
3 |
10 |
COSM87897745 |
TP53 |
large intestine,rectum,adenoma,NS
|
c.524G>A |
p.R175H |
17:7675088-7675088 |
3 |
11 |
COSM87921224 |
TP53 |
large intestine,colon,other,hamartoma
|
c.835G>A |
p.G279R |
17:7673785-7673785 |
3 |
12 |
COSM90693261 |
STK11 |
large intestine,rectum,adenoma,NS
|
c.842C>T |
p.P281L |
19:1221320-1221320 |
3 |
13 |
COSM90691966 |
STK11 |
large intestine,colon,adenoma,NS
|
c.511G>A |
p.G171S |
19:1220419-1220419 |
3 |
14 |
COSM91382025 |
SMAD4 |
large intestine,colon,adenoma,NS
|
c.988G>C |
p.E330Q |
18:51065455-51065455 |
3 |
15 |
COSM91397656 |
SMAD4 |
large intestine,colon,adenoma,NS
|
c.1064A>C |
p.D355A |
18:51065531-51065531 |
3 |
16 |
COSM91380674 |
SMAD4 |
large intestine,rectum,adenoma,NS
|
c.1082G>A |
p.R361H |
18:51065549-51065549 |
3 |
17 |
COSM86640829 |
RB1 |
large intestine,rectum,adenoma,NS
|
c.1644A>C |
p.K548N |
13:48381392-48381392 |
3 |
18 |
COSM97107772 |
NRAS |
large intestine,colon,adenoma,NS
|
c.37G>C |
p.G13R |
1:114716124-114716124 |
3 |
19 |
COSM97107359 |
NRAS |
large intestine,rectum,adenoma,NS
|
c.182A>G |
p.Q61R |
1:114713908-114713908 |
3 |
20 |
COSM85462709 |
MSH2 |
large intestine,colon,adenoma,NS
|
c.589A>G |
p.K197E |
2:47410316-47410316 |
3 |
21 |
COSM87804055 |
KRAS |
large intestine,rectum,adenoma,NS
|
c.35G>T |
p.G12V |
12:25245350-25245350 |
3 |
22 |
COSM87804068 |
KRAS |
large intestine,rectum,adenoma,NS
|
c.34G>A |
p.G12S |
12:25245351-25245351 |
3 |
23 |
COSM87804075 |
KRAS |
large intestine,colon,adenoma,NS
|
c.34G>T |
p.G12C |
12:25245351-25245351 |
3 |
24 |
COSM87804028 |
KRAS |
large intestine,colon,adenoma,NS
|
c.38G>A |
p.G13D |
12:25245347-25245347 |
3 |
25 |
COSM87804005 |
KRAS |
large intestine,colon,adenoma,NS
|
c.35G>A |
p.G12D |
12:25245350-25245350 |
3 |
26 |
COSM87808527 |
KRAS |
large intestine,rectum,adenoma,NS
|
c.182A>T |
p.Q61L |
12:25227342-25227342 |
3 |
27 |
COSM87805079 |
KRAS |
large intestine,rectum,adenoma,NS
|
c.183A>C |
p.Q61H |
12:25227341-25227341 |
3 |
28 |
COSM87804155 |
KRAS |
large intestine,rectum,adenoma,NS
|
c.34G>C |
p.G12R |
12:25245351-25245351 |
3 |
29 |
COSM87804083 |
KRAS |
large intestine,colon,adenoma,NS
|
c.35G>C |
p.G12A |
12:25245350-25245350 |
3 |
30 |
COSM87805356 |
KRAS |
large intestine,rectum,adenoma,NS
|
c.183A>T |
p.Q61H |
12:25227341-25227341 |
3 |
31 |
COSM93760866 |
GNAS |
large intestine,rectum,adenoma,NS
|
c.2530C>T |
p.R844C |
20:58909365-58909365 |
3 |
32 |
COSM93760887 |
GNAS |
large intestine,colon,adenoma,NS
|
c.2531G>A |
p.R844H |
20:58909366-58909366 |
3 |
33 |
COSM141971230 |
FBXW7 |
large intestine,colon,adenoma,NS
|
c.1558G>A |
p.D520N |
4:152326092-152326092 |
3 |
34 |
COSM141953409 |
FBXW7 |
large intestine,rectum,adenoma,NS
|
c.1513C>T |
p.R505C |
4:152326137-152326137 |
3 |
35 |
COSM141953587 |
FBXW7 |
large intestine,colon,adenoma,NS
|
c.832C>T |
p.R278* |
4:152337831-152337831 |
3 |
36 |
COSM141954683 |
FBXW7 |
large intestine,rectum,adenoma,NS
|
c.892C>T |
p.P298S |
4:152332689-152332689 |
3 |
37 |
COSM141959845 |
FBXW7 |
large intestine,colon,adenoma,NS
|
c.1514G>A |
p.R505H |
4:152326136-152326136 |
3 |
38 |
COSM141953227 |
FBXW7 |
large intestine,colon,adenoma,NS
|
c.1393C>T |
p.R465C |
4:152328233-152328233 |
3 |
39 |
COSM141958901 |
FBXW7 |
large intestine,rectum,adenoma,NS
|
c.1436G>T |
p.R479L |
4:152326214-152326214 |
3 |
40 |
COSM141953665 |
FBXW7 |
large intestine,colon,adenoma,NS
|
c.1394G>A |
p.R465H |
4:152328232-152328232 |
3 |
41 |
COSM86757152 |
EGFR |
large intestine,colon,adenoma,NS
|
c.1787C>T |
p.P596L |
7:55165344-55165344 |
3 |
42 |
COSM150913542 |
CTNNB1 |
large intestine,colon,adenoma,NS
|
c.134C>T |
p.S45F |
3:41224646-41224646 |
3 |
43 |
COSM150913621 |
CTNNB1 |
large intestine,colon,adenoma,NS
|
c.97T>C |
p.S33P |
3:41224609-41224609 |
3 |
44 |
COSM150913795 |
CTNNB1 |
large intestine,rectum,adenoma,NS
|
c.109T>C |
p.S37P |
3:41224621-41224621 |
3 |
45 |
COSM150913536 |
CTNNB1 |
large intestine,colon,adenoma,NS
|
c.121A>G |
p.T41A |
3:41224633-41224633 |
3 |
46 |
COSM150913580 |
CTNNB1 |
large intestine,colon,adenoma,NS
|
c.104T>G |
p.I35S |
3:41224616-41224616 |
3 |
47 |
COSM150913727 |
CTNNB1 |
large intestine,colon,adenoma,NS
|
c.101G>A |
p.G34E |
3:41224613-41224613 |
3 |
48 |
COSM150913545 |
CTNNB1 |
large intestine,colon,adenoma,NS
|
c.133T>C |
p.S45P |
3:41224645-41224645 |
3 |
49 |
COSM150917416 |
CTNNB1 |
large intestine,colon,adenoma,NS
|
c.490G>A |
p.D164N |
3:41225202-41225202 |
3 |
50 |
COSM150563774 |
BRAF |
large intestine,colon,adenoma,NS
|
c.1799T>A |
p.V600E |
7:140753336-140753336 |
3 |
|