ClinVar genetic disease variations for Werner Syndrome:
6
(show top 50)
(show all 1238)
# |
Gene |
Name |
Type |
Significance |
ClinVarId |
dbSNP ID |
GRCh37 Pos |
GRCh38 Pos |
1 |
WRN |
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) |
SNV |
Pathogenic |
5444 |
rs121908446 |
8:31014977-31014977 |
8:31157461-31157461 |
2 |
WRN |
NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter) |
SNV |
Pathogenic |
5445 |
rs121908447 |
8:31004913-31004913 |
8:31147397-31147397 |
3 |
WRN |
NM_000553.6(WRN):c.3139-1G>C |
SNV |
Pathogenic |
5447 |
rs113993961 |
8:30999196-30999196 |
8:31141680-31141680 |
4 |
WRN |
NM_000553.6(WRN):c.3915dup (p.Ala1306fs) |
Duplication |
Pathogenic |
5448 |
rs587776621 |
8:31014978-31014979 |
8:31157462-31157463 |
5 |
WRN |
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) |
SNV |
Pathogenic |
5449 |
rs17847577 |
8:30938648-30938648 |
8:31081132-31081132 |
6 |
WRN |
NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu) |
SNV |
Pathogenic |
5450 |
rs369158322 |
8:31007970-31007970 |
8:31150454-31150454 |
7 |
WRN |
RECQL2, 1-BP DEL, NT1396 |
Deletion |
Pathogenic |
5451 |
|
|
|
8 |
WRN |
NM_000553.6(WRN):c.1730A>T (p.Lys577Met) |
SNV |
Pathogenic |
5452 |
rs121908448 |
8:30948359-30948359 |
8:31090843-31090843 |
9 |
WRN |
NM_000553.6(WRN):c.2089-3024A>G |
SNV |
Pathogenic |
38886 |
rs281865157 |
8:30966107-30966107 |
8:31108591-31108591 |
10 |
WRN |
NM_000553.6(WRN):c.2179dup (p.Cys727fs) |
Duplication |
Pathogenic |
38887 |
rs281865158 |
8:30969220-30969221 |
8:31111704-31111705 |
11 |
WRN |
NM_000553.6(WRN):c.3460-2A>C |
SNV |
Pathogenic |
38889 |
rs281865159 |
8:31004878-31004878 |
8:31147362-31147362 |
12 |
WRN |
NM_000553.6(WRN):c.3590del (p.Asn1197fs) |
Deletion |
Pathogenic |
38890 |
rs281865160 |
8:31007871-31007871 |
8:31150355-31150355 |
13 |
WRN |
NM_000553.6(WRN):c.2546_2547dup (p.Gln850fs) |
Duplication |
Pathogenic |
238140 |
rs878854136 |
8:30977854-30977855 |
8:31120338-31120339 |
14 |
WRN |
NM_000553.6(WRN):c.15del (p.Lys5fs) |
Deletion |
Pathogenic |
238124 |
rs878854133 |
8:30915971-30915971 |
8:31058455-31058455 |
15 |
WRN |
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) |
SNV |
Pathogenic |
404045 |
rs774765029 |
8:30982072-30982072 |
8:31124556-31124556 |
16 |
WRN |
NM_000553.6(WRN):c.502_503del (p.Lys168fs) |
Deletion |
Pathogenic |
403979 |
rs776785728 |
8:30922574-30922575 |
8:31065058-31065059 |
17 |
WRN |
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) |
SNV |
Pathogenic |
404010 |
rs370324188 |
8:30925792-30925792 |
8:31068276-31068276 |
18 |
WRN |
NC_000008.11:g.(?_31150341)_(31157530_?)del |
Deletion |
Pathogenic |
417322 |
|
8:31007857-31015046 |
8:31150341-31157530 |
19 |
WRN |
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs) |
Deletion |
Pathogenic |
458404 |
rs1383589957 |
8:30969144-30969145 |
8:31111628-31111629 |
20 |
WRN |
NC_000008.11:g.(?_31059147)_(31059271_?)del |
Deletion |
Pathogenic |
458372 |
|
8:30916663-30916787 |
8:31059147-31059271 |
21 |
WRN |
NM_000553.6(WRN):c.2107dup (p.Thr703fs) |
Duplication |
Pathogenic |
458405 |
rs1554526707 |
8:30969148-30969149 |
8:31111632-31111633 |
22 |
WRN |
NM_000553.6(WRN):c.327T>A (p.Cys109Ter) |
SNV |
Pathogenic |
458445 |
rs371538747 |
8:30921922-30921922 |
8:31064406-31064406 |
23 |
WRN |
NM_000553.6(WRN):c.3033_3034AG[2] (p.Ser1013fs) |
Microsatellite |
Pathogenic |
458440 |
rs759972548 |
8:30999011-30999012 |
8:31141495-31141496 |
24 |
WRN |
NM_000553.6(WRN):c.229dup (p.Asp77fs) |
Duplication |
Pathogenic |
458413 |
rs747587698 |
8:30921820-30921821 |
8:31064304-31064305 |
25 |
WRN |
NM_000553.6(WRN):c.3408dup (p.Ala1137fs) |
Duplication |
Pathogenic |
458452 |
rs1284409960 |
8:31004588-31004589 |
8:31147072-31147073 |
26 |
WRN |
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter) |
SNV |
Pathogenic |
528094 |
rs763089663 |
8:30969263-30969263 |
8:31111747-31111747 |
27 |
WRN |
NM_000553.6(WRN):c.522_523dup (p.Trp175fs) |
Duplication |
Pathogenic |
528095 |
rs1361270203 |
8:30924565-30924566 |
8:31067049-31067050 |
28 |
WRN |
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter) |
SNV |
Pathogenic |
528133 |
rs143916053 |
8:30969236-30969236 |
8:31111720-31111720 |
29 |
WRN |
NM_000553.6(WRN):c.2604G>A (p.Trp868Ter) |
SNV |
Pathogenic |
528134 |
rs1554528411 |
8:30977914-30977914 |
8:31120398-31120398 |
30 |
WRN |
NM_000553.6(WRN):c.2332C>T (p.Gln778Ter) |
SNV |
Pathogenic |
528157 |
rs1554527775 |
8:30973928-30973928 |
8:31116412-31116412 |
31 |
WRN |
NM_000553.6(WRN):c.509_510dup (p.Cys171fs) |
Duplication |
Pathogenic |
528158 |
rs1554519254 |
8:30924551-30924552 |
8:31067035-31067036 |
32 |
WRN |
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs) |
Indel |
Pathogenic |
566883 |
rs1563338855 |
8:30938657-30938658 |
8:31081141-31081142 |
33 |
WRN |
NM_000553.6(WRN):c.88G>T (p.Glu30Ter) |
SNV |
Pathogenic |
569323 |
rs1198210848 |
8:30916051-30916051 |
8:31058535-31058535 |
34 |
WRN |
NM_000553.6(WRN):c.2170C>T (p.Gln724Ter) |
SNV |
Pathogenic |
570679 |
rs1563357741 |
8:30969212-30969212 |
8:31111696-31111696 |
35 |
WRN |
NM_000553.6(WRN):c.3382del (p.Ser1128fs) |
Deletion |
Pathogenic |
571933 |
rs778872619 |
8:31001132-31001132 |
8:31143616-31143616 |
36 |
WRN |
NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter) |
SNV |
Pathogenic |
567775 |
rs1563376526 |
8:30999080-30999080 |
8:31141564-31141564 |
37 |
WRN |
NM_000553.6(WRN):c.751_754AACA[1] (p.Lys252fs) |
Microsatellite |
Pathogenic |
573403 |
rs1244318419 |
8:30933715-30933718 |
8:31076199-31076202 |
38 |
WRN |
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs) |
Deletion |
Pathogenic |
575023 |
rs748860208 |
8:30999006-30999009 |
8:31141490-31141493 |
39 |
WRN |
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter) |
SNV |
Pathogenic |
568746 |
rs757808169 |
8:30948373-30948373 |
8:31090857-31090857 |
40 |
WRN |
NM_000553.6(WRN):c.554T>G (p.Leu185Ter) |
SNV |
Pathogenic |
577438 |
rs1563331288 |
8:30924598-30924598 |
8:31067082-31067082 |
41 |
WRN |
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter) |
SNV |
Pathogenic |
578242 |
rs1303126572 |
8:31015025-31015025 |
8:31157509-31157509 |
42 |
WRN |
NM_000553.6(WRN):c.3711del (p.Lys1237fs) |
Deletion |
Pathogenic |
577673 |
rs1563385391 |
8:31012160-31012160 |
8:31154644-31154644 |
43 |
WRN |
NM_000553.6(WRN):c.525del (p.Thr174_Trp175insTer) |
Deletion |
Pathogenic |
579824 |
rs752830087 |
8:30924568-30924568 |
8:31067052-31067052 |
44 |
WRN |
NM_000553.6(WRN):c.1111G>T (p.Glu371Ter) |
SNV |
Pathogenic |
580245 |
rs1563338837 |
8:30938654-30938654 |
8:31081138-31081138 |
45 |
WRN |
NM_000553.6(WRN):c.3682del (p.Val1228fs) |
Deletion |
Pathogenic |
581085 |
rs1563382597 |
8:31007966-31007966 |
8:31150450-31150450 |
46 |
WRN |
NM_000553.6(WRN):c.3382dup (p.Ser1128fs) |
Duplication |
Pathogenic |
581978 |
rs778872619 |
8:31001131-31001132 |
8:31143615-31143616 |
47 |
WRN |
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter) |
SNV |
Pathogenic |
582165 |
rs1563376347 |
8:30998972-30998972 |
8:31141456-31141456 |
48 |
WRN |
NM_000553.6(WRN):c.961G>T (p.Glu321Ter) |
SNV |
Pathogenic |
641343 |
rs779012596 |
8:30938504-30938504 |
8:31080988-31080988 |
49 |
WRN |
NM_000553.6(WRN):c.859del (p.Asp287fs) |
Deletion |
Pathogenic |
641348 |
rs1585427471 |
8:30938401-30938401 |
8:31080885-31080885 |
50 |
WRN |
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) |
Deletion |
Pathogenic |
640381 |
rs1585440064 |
8:30947991-30947991 |
8:31090475-31090475 |
UniProtKB/Swiss-Prot genetic disease variations for Werner Syndrome:
73
Cosmic variations for Werner Syndrome:
9
(show all 50)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM106056882 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.641A>G |
p.H214R |
17:7674890-7674890 |
3 |
2 |
COSM111763021 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.641A>G |
p.H214R |
17:7674890-7674890 |
3 |
3 |
COSM144313682 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.524A>G |
p.H175R |
17:7674890-7674890 |
3 |
4 |
COSM105659131 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.499C>T |
p.Q167* |
17:7675113-7675113 |
3 |
5 |
COSM93187807 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.641A>G |
p.H214R |
17:7674890-7674890 |
3 |
6 |
COSM143375075 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.524A>G |
p.H175R |
17:7674890-7674890 |
3 |
7 |
COSM105624912 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.641A>G |
p.H214R |
17:7674890-7674890 |
3 |
8 |
COSM122766413 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.103C>T |
p.Q35* |
17:7675113-7675113 |
3 |
9 |
COSM145021980 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.524A>G |
p.H175R |
17:7674890-7674890 |
3 |
10 |
COSM93215390 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.499C>T |
p.Q167* |
17:7675113-7675113 |
3 |
11 |
COSM143182864 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.22C>T |
p.Q8* |
17:7675113-7675113 |
3 |
12 |
COSM144334467 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.382C>T |
p.Q128* |
17:7675113-7675113 |
3 |
13 |
COSM143972614 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.22C>T |
p.Q8* |
17:7675113-7675113 |
3 |
14 |
COSM87902864 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.641A>G |
p.H214R |
17:7674890-7674890 |
3 |
15 |
COSM112257156 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.641A>G |
p.H214R |
17:7674890-7674890 |
3 |
16 |
COSM142564162 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.524A>G |
p.H175R |
17:7674890-7674890 |
3 |
17 |
COSM144655779 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.524A>G |
p.H175R |
17:7674890-7674890 |
3 |
18 |
COSM142840367 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.641A>G |
p.H214R |
17:7674890-7674890 |
3 |
19 |
COSM122737959 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.245A>G |
p.H82R |
17:7674890-7674890 |
3 |
20 |
COSM144111084 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.22C>T |
p.Q8* |
17:7675113-7675113 |
3 |
21 |
COSM121881087 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.245A>G |
p.H82R |
17:7674890-7674890 |
3 |
22 |
COSM142860117 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.499C>T |
p.Q167* |
17:7675113-7675113 |
3 |
23 |
COSM144089819 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.164A>G |
p.H55R |
17:7674890-7674890 |
3 |
24 |
COSM144682712 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.382C>T |
p.Q128* |
17:7675113-7675113 |
3 |
25 |
COSM143159971 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.164A>G |
p.H55R |
17:7674890-7674890 |
3 |
26 |
COSM122275322 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.245A>G |
p.H82R |
17:7674890-7674890 |
3 |
27 |
COSM144041526 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.466C>T |
p.Q156* |
17:7675113-7675113 |
3 |
28 |
COSM142592590 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.382C>T |
p.Q128* |
17:7675113-7675113 |
3 |
29 |
COSM106084061 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.499C>T |
p.Q167* |
17:7675113-7675113 |
3 |
30 |
COSM112284809 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.499C>T |
p.Q167* |
17:7675113-7675113 |
3 |
31 |
COSM143401670 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.382C>T |
p.Q128* |
17:7675113-7675113 |
3 |
32 |
COSM122302302 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.103C>T |
p.Q35* |
17:7675113-7675113 |
3 |
33 |
COSM143947426 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.164A>G |
p.H55R |
17:7674890-7674890 |
3 |
34 |
COSM144017515 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.608A>G |
p.H203R |
17:7674890-7674890 |
3 |
35 |
COSM121910283 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.103C>T |
p.Q35* |
17:7675113-7675113 |
3 |
36 |
COSM111790424 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.499C>T |
p.Q167* |
17:7675113-7675113 |
3 |
37 |
COSM145045823 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.382C>T |
p.Q128* |
17:7675113-7675113 |
3 |
38 |
COSM87935416 |
TP53 |
soft tissue,upper leg,sarcoma,NS
|
c.499C>T |
p.Q167* |
17:7675113-7675113 |
3 |
39 |
COSM92479334 |
SH2B3 |
soft tissue,upper leg,sarcoma,NS
|
c.232G>A |
p.E78K |
12:111418377-111418377 |
3 |
40 |
COSM135372634 |
NUP93 |
soft tissue,upper leg,sarcoma,NS
|
c.116C>T |
p.A39V |
16:56748363-56748363 |
3 |
41 |
COSM88525472 |
NUP93 |
soft tissue,upper leg,sarcoma,NS
|
c.116C>T |
p.A39V |
16:56748363-56748363 |
3 |
42 |
COSM97107943 |
NRAS |
soft tissue,skin,sarcoma,NS
|
c.38G>C |
p.G13A |
1:114716123-114716123 |
3 |
43 |
COSM95516578 |
H3-3A |
soft tissue,bone,sarcoma,NS
|
c.103G>T |
p.G35W |
1:226064454-226064454 |
3 |
44 |
COSM95520543 |
H3-3A |
soft tissue,bone,sarcoma,NS
|
c.103G>T |
p.G35W |
1:226064454-226064454 |
3 |
45 |
COSM95523461 |
H3-3A |
soft tissue,bone,sarcoma,NS
|
c.103G>T |
p.G35W |
1:226064454-226064454 |
3 |
46 |
COSM95526780 |
H3-3A |
soft tissue,bone,sarcoma,NS
|
c.103G>T |
p.G35W |
1:226064454-226064454 |
3 |
47 |
COSM87494413 |
GNAQ |
soft tissue,bone,sarcoma,NS
|
c.442C>T |
p.R148* |
9:77815650-77815650 |
3 |
48 |
COSM98577250 |
ANKRD11 |
soft tissue,upper leg,sarcoma,NS
|
c.2882G>T |
p.R961L |
16:89283660-89283660 |
3 |
49 |
COSM87618826 |
ANKRD11 |
soft tissue,upper leg,sarcoma,NS
|
c.2882G>T |
p.R961L |
16:89283660-89283660 |
3 |
50 |
COSM147901996 |
ANKRD11 |
soft tissue,upper leg,sarcoma,NS
|
c.2882G>T |
p.R961L |
16:89283660-89283660 |
3 |
|