ClinVar genetic disease variations for Epidermodysplasia Verruciformis 1:
6
(show top 50)
(show all 301)
# |
Gene |
Name |
Type |
Significance |
ClinVarId |
dbSNP ID |
GRCh37 Pos |
GRCh38 Pos |
1 |
TMC6 |
NM_007267.7(TMC6):c.748_1082+56del |
Deletion |
Pathogenic |
582588 |
rs1567997496 |
17:76120014-76120748 |
17:78123933-78124667 |
2 |
TMC6 |
NM_007267.7(TMC6):c.1325dup (p.Thr444fs) |
Duplication |
Pathogenic |
526234 |
rs1555655146 |
17:76117694-76117695 |
17:78121613-78121614 |
3 |
TMC6 |
NM_007267.7(TMC6):c.-75+434G>A |
SNV |
Pathogenic |
653590 |
rs1598895511 |
17:76127988-76127988 |
17:78131907-78131907 |
4 |
TMC8 |
NC_000017.11:g.(?_78137697)_(78137834_?)del |
Deletion |
Pathogenic |
456001 |
|
17:76133778-76133915 |
17:78137697-78137834 |
5 |
TMC8 |
NM_152468.5(TMC8):c.1746del (p.Leu583fs) |
Deletion |
Pathogenic |
658615 |
rs1598923748 |
17:76134734-76134734 |
17:78138653-78138653 |
6 |
TMC6 |
NM_001127198.5(TMC6):c.967del (p.Leu323fs) |
Deletion |
Pathogenic |
836197 |
|
17:76120185-76120185 |
17:78124104-78124104 |
7 |
TMC8 |
NM_152468.5(TMC8):c.1268dup (p.Glu425fs) |
Duplication |
Pathogenic |
959535 |
|
17:76133813-76133814 |
17:78137732-78137733 |
8 |
TMC6 |
NM_001127198.5(TMC6):c.306C>A (p.Tyr102Ter) |
SNV |
Pathogenic |
933595 |
|
17:76121931-76121931 |
17:78125850-78125850 |
9 |
TMC8 |
NM_152468.5(TMC8):c.1128-2A>G |
SNV |
Likely pathogenic |
962520 |
|
17:76133314-76133314 |
17:78137233-78137233 |
10 |
TMC6 |
NM_001127198.5(TMC6):c.2022-1G>C |
SNV |
Likely pathogenic |
852379 |
|
17:76113726-76113726 |
17:78117645-78117645 |
11 |
TMC8 |
NM_152468.5(TMC8):c.669-2A>C |
SNV |
Likely pathogenic |
967152 |
|
17:76129932-76129932 |
17:78133851-78133851 |
12 |
TMC6 |
NM_001127198.5(TMC6):c.1383+1G>A |
SNV |
Likely pathogenic |
963990 |
|
17:76117636-76117636 |
17:78121555-78121555 |
13 |
TMC8 |
NM_152468.5(TMC8):c.449-1G>T |
SNV |
Likely pathogenic |
935805 |
|
17:76128868-76128868 |
17:78132787-78132787 |
14 |
TMC6 |
NM_007267.7(TMC6):c.1811+1G>A |
SNV |
Likely pathogenic |
580435 |
rs1567989416 |
17:76115377-76115377 |
17:78119296-78119296 |
15 |
TMC6 |
NM_007267.7(TMC6):c.892-2A>G |
SNV |
Likely pathogenic |
662928 |
rs769471844 |
17:76120262-76120262 |
17:78124181-78124181 |
16 |
TMC6 |
NM_007267.7(TMC6):c.280C>T (p.Arg94Ter) |
SNV |
risk factor |
4748 |
rs121908327 |
17:76121957-76121957 |
17:78125876-78125876 |
17 |
TMC6 |
NM_007267.7(TMC6):c.1726G>T (p.Glu576Ter) |
SNV |
risk factor |
4749 |
rs121908328 |
17:76115463-76115463 |
17:78119382-78119382 |
18 |
TMC6 |
NM_007267.7(TMC6):c.744C>A (p.Tyr248Ter) |
SNV |
risk factor |
4750 |
rs121908329 |
17:76120752-76120752 |
17:78124671-78124671 |
19 |
TMC6 |
NM_007267.7(TMC6):c.892-2A>T |
SNV |
Likely pathogenic |
4751 |
rs769471844 |
17:76120262-76120262 |
17:78124181-78124181 |
20 |
TMC6 |
NM_007267.7(TMC6):c.116A>G (p.Gln39Arg) |
SNV |
Uncertain significance |
456003 |
rs974988254 |
17:76122670-76122670 |
17:78126589-78126589 |
21 |
TMC6 |
NM_007267.7(TMC6):c.2011G>A (p.Ala671Thr) |
SNV |
Uncertain significance |
456012 |
rs1415810329 |
17:76113893-76113893 |
17:78117812-78117812 |
22 |
TMC6 |
NM_007267.7(TMC6):c.1200G>A (p.Gln400=) |
SNV |
Uncertain significance |
456004 |
rs770350851 |
17:76118713-76118713 |
17:78122632-78122632 |
23 |
TMC6 |
NM_007267.7(TMC6):c.1961C>T (p.Thr654Met) |
SNV |
Uncertain significance |
456011 |
rs549556408 |
17:76113943-76113943 |
17:78117862-78117862 |
24 |
TMC6 |
NM_007267.7(TMC6):c.633+8C>T |
SNV |
Uncertain significance |
626187 |
rs369450669 |
17:76120962-76120962 |
17:78124881-78124881 |
25 |
TMC6 |
NM_007267.7(TMC6):c.-75+600C>A |
SNV |
Uncertain significance |
626188 |
rs200226247 |
17:76127822-76127822 |
17:78131741-78131741 |
26 |
TMC6 |
NM_007267.7(TMC6):c.1147G>A (p.Val383Ile) |
SNV |
Uncertain significance |
639661 |
rs375277020 |
17:76118766-76118766 |
17:78122685-78122685 |
27 |
TMC8 |
NM_152468.4(TMC8):c.2161C>G (p.Pro721Ala) |
SNV |
Uncertain significance |
640919 |
rs1187732896 |
17:76137173-76137173 |
17:78141092-78141092 |
28 |
TMC6 |
NM_007267.7(TMC6):c.706C>T (p.Arg236Cys) |
SNV |
Uncertain significance |
641248 |
rs753272370 |
17:76120790-76120790 |
17:78124709-78124709 |
29 |
TMC6 |
NM_007267.7(TMC6):c.2280G>C (p.Glu760Asp) |
SNV |
Uncertain significance |
641694 |
rs748630526 |
17:76109703-76109703 |
17:78113622-78113622 |
30 |
TMC8 |
NM_152468.4(TMC8):c.533C>A (p.Ala178Asp) |
SNV |
Uncertain significance |
642758 |
rs138940132 |
17:76129488-76129488 |
17:78133407-78133407 |
31 |
TMC8 |
NM_152468.4(TMC8):c.1649G>A (p.Gly550Asp) |
SNV |
Uncertain significance |
642895 |
rs1350592733 |
17:76134545-76134545 |
17:78138464-78138464 |
32 |
TMC6 |
NM_007267.7(TMC6):c.1441C>A (p.Leu481Ile) |
SNV |
Uncertain significance |
642896 |
rs1598851806 |
17:76117188-76117188 |
17:78121107-78121107 |
33 |
TMC6 |
NM_007267.7(TMC6):c.2390C>T (p.Ala797Val) |
SNV |
Uncertain significance |
649225 |
rs907354650 |
17:76109257-76109257 |
17:78113176-78113176 |
34 |
TMC6 |
NM_007267.7(TMC6):c.129G>C (p.Gln43His) |
SNV |
Uncertain significance |
650006 |
rs371802601 |
17:76122657-76122657 |
17:78126576-78126576 |
35 |
TMC8 |
NM_152468.4(TMC8):c.1206C>G (p.Asp402Glu) |
SNV |
Uncertain significance |
651801 |
rs746051835 |
17:76133394-76133394 |
17:78137313-78137313 |
36 |
TMC8 |
NM_152468.4(TMC8):c.1065C>G (p.Phe355Leu) |
SNV |
Uncertain significance |
651874 |
rs760559122 |
17:76131028-76131028 |
17:78134947-78134947 |
37 |
TMC6 |
NM_007267.7(TMC6):c.482G>A (p.Arg161Gln) |
SNV |
Uncertain significance |
652684 |
rs763383628 |
17:76121293-76121293 |
17:78125212-78125212 |
38 |
TMC8 |
NM_152468.4(TMC8):c.1637C>T (p.Ala546Val) |
SNV |
Uncertain significance |
654083 |
rs1290549286 |
17:76134533-76134533 |
17:78138452-78138452 |
39 |
TMC6 |
NM_007267.7(TMC6):c.1729A>G (p.Lys577Glu) |
SNV |
Uncertain significance |
654892 |
rs1598844172 |
17:76115460-76115460 |
17:78119379-78119379 |
40 |
TMC8 |
NM_152468.4(TMC8):c.968A>G (p.Tyr323Cys) |
SNV |
Uncertain significance |
654987 |
rs530521432 |
17:76130626-76130626 |
17:78134545-78134545 |
41 |
TMC8 |
NM_152468.4(TMC8):c.1237G>T (p.Val413Phe) |
SNV |
Uncertain significance |
655169 |
rs545052827 |
17:76133425-76133425 |
17:78137344-78137344 |
42 |
TMC6 |
NM_007267.7(TMC6):c.2263G>A (p.Glu755Lys) |
SNV |
Uncertain significance |
655485 |
rs1467967272 |
17:76113364-76113364 |
17:78117283-78117283 |
43 |
TMC6 |
NM_007267.7(TMC6):c.1972T>G (p.Phe658Val) |
SNV |
Uncertain significance |
656239 |
rs1280636115 |
17:76113932-76113932 |
17:78117851-78117851 |
44 |
TMC8 |
NM_152468.4(TMC8):c.1665-8C>G |
SNV |
Uncertain significance |
656770 |
rs1598923439 |
17:76134647-76134647 |
17:78138566-78138566 |
45 |
TMC6 |
NM_007267.7(TMC6):c.2383C>T (p.Pro795Ser) |
SNV |
Uncertain significance |
659016 |
rs755596766 |
17:76109264-76109264 |
17:78113183-78113183 |
46 |
TMC8 |
NM_152468.4(TMC8):c.1168G>C (p.Val390Leu) |
SNV |
Uncertain significance |
659175 |
rs150546646 |
17:76133356-76133356 |
17:78137275-78137275 |
47 |
TMC6 |
NM_007267.7(TMC6):c.2108C>T (p.Ala703Val) |
SNV |
Uncertain significance |
659371 |
rs774998109 |
17:76113639-76113639 |
17:78117558-78117558 |
48 |
TMC6 |
NM_007267.7(TMC6):c.2407del (p.Gln803fs) |
Deletion |
Uncertain significance |
659827 |
rs1408101229 |
17:76109240-76109240 |
17:78113159-78113159 |
49 |
TMC6 |
NM_007267.7(TMC6):c.1213C>T (p.Arg405Cys) |
SNV |
Uncertain significance |
660372 |
rs369868982 |
17:76118700-76118700 |
17:78122619-78122619 |
50 |
TMC6 |
NM_007267.7(TMC6):c.739T>C (p.Ser247Pro) |
SNV |
Uncertain significance |
662147 |
rs1469859349 |
17:76120757-76120757 |
17:78124676-78124676 |
Cosmic variations for Epidermodysplasia Verruciformis 1:
9
(show top 50)
(show all 1905)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM106059757 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.260C>A |
p.P87Q |
17:7676109-7676109 |
20 |
2 |
COSM112354551 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.565G>A |
p.A189T |
17:7674966-7674966 |
20 |
3 |
COSM112254631 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.586C>T |
p.R196* |
17:7674945-7674945 |
20 |
4 |
COSM111759858 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
20 |
5 |
COSM143943797 |
TP53 |
skin,neck,carcinoma,squamous cell carcinoma
|
c.266G>A |
p.R89Q |
17:7674220-7674220 |
20 |
6 |
COSM121875437 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.178C>T |
p.Q60* |
17:7674957-7674957 |
20 |
7 |
COSM143388508 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.629G>C |
p.R210T |
17:7674217-7674217 |
20 |
8 |
COSM111758868 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
20 |
9 |
COSM142560384 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.616G>T |
p.G206C |
17:7674230-7674230 |
20 |
10 |
COSM145161899 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.833A>G |
p.Q278R |
17:7673578-7673578 |
20 |
11 |
COSM144021997 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.421C>T |
p.P141S |
17:7675158-7675158 |
20 |
12 |
COSM144658487 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.143C>A |
p.P48Q |
17:7676109-7676109 |
20 |
13 |
COSM142639459 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.597T>A |
p.C199* |
17:7674249-7674249 |
20 |
14 |
COSM105620390 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.733G>T |
p.G245C |
17:7674230-7674230 |
20 |
15 |
COSM112254266 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.673-1G>A |
p.? |
17:7674291-7674291 |
20 |
16 |
COSM112263720 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.832C>T |
p.P278S |
17:7673788-7673788 |
20 |
17 |
COSM93239210 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.706T>C |
p.Y236H |
17:7674257-7674257 |
20 |
18 |
COSM145019215 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.739G>A |
p.E247K |
17:7673764-7673764 |
20 |
19 |
COSM105620642 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
20 |
20 |
COSM143949062 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.263A>C |
p.N88T |
17:7674223-7674223 |
20 |
21 |
COSM111775215 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.746G>C |
p.R249T |
17:7674217-7674217 |
20 |
22 |
COSM144129318 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.229T>C |
p.Y77H |
17:7674257-7674257 |
20 |
23 |
COSM144088618 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.160C>T |
p.R54* |
17:7674894-7674894 |
20 |
24 |
COSM87910628 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.772G>A |
p.E258K |
17:7674191-7674191 |
20 |
25 |
COSM144662686 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.715C>T |
p.P239S |
17:7673788-7673788 |
20 |
26 |
COSM144650676 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.457C>T |
p.Q153* |
17:7674957-7674957 |
20 |
27 |
COSM142560553 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.625C>T |
p.R209W |
17:7674221-7674221 |
20 |
28 |
COSM144309924 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.701G>A |
p.R234H |
17:7673802-7673802 |
20 |
29 |
COSM93194159 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.832C>T |
p.P278S |
17:7673788-7673788 |
20 |
30 |
COSM142560281 |
TP53 |
skin,neck,carcinoma,squamous cell carcinoma
|
c.626G>A |
p.R209Q |
17:7674220-7674220 |
20 |
31 |
COSM93183975 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
20 |
32 |
COSM93199912 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.746G>C |
p.R249T |
17:7674217-7674217 |
20 |
33 |
COSM144023384 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.739G>A |
p.E247K |
17:7674191-7674191 |
20 |
34 |
COSM144087977 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.379G>A |
p.E127K |
17:7673764-7673764 |
20 |
35 |
COSM145020185 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.520C>T |
p.R174* |
17:7674894-7674894 |
20 |
36 |
COSM105630961 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.782+393C>T |
p.? |
17:7673788-7673788 |
20 |
37 |
COSM111758130 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.574C>T |
p.Q192* |
17:7674957-7674957 |
20 |
38 |
COSM122749884 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.350G>C |
p.R117T |
17:7674217-7674217 |
20 |
39 |
COSM93190386 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.260C>A |
p.P87Q |
17:7676109-7676109 |
20 |
40 |
COSM106052835 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.574C>T |
p.Q192* |
17:7674957-7674957 |
20 |
41 |
COSM144023287 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.799C>T |
p.P267S |
17:7673788-7673788 |
20 |
42 |
COSM106059965 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.647T>A |
p.V216E |
17:7674884-7674884 |
20 |
43 |
COSM105621918 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.782+417G>A |
p.? |
17:7673764-7673764 |
20 |
44 |
COSM143946062 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.160C>T |
p.R54* |
17:7674894-7674894 |
20 |
45 |
COSM121887849 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.436C>T |
p.P146S |
17:7673788-7673788 |
20 |
46 |
COSM143386984 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.193C>T |
p.Q65* |
17:7676059-7676059 |
20 |
47 |
COSM144652672 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.739G>A |
p.E247K |
17:7673764-7673764 |
20 |
48 |
COSM142843719 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.454C>T |
p.P152S |
17:7675158-7675158 |
20 |
49 |
COSM122787283 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.449G>C |
p.R150P |
17:7673775-7673775 |
20 |
50 |
COSM144213765 |
TP53 |
skin,hand,carcinoma,squamous cell carcinoma
|
c.473A>G |
p.Q158R |
17:7673578-7673578 |
20 |
|