1 |
CEP290 |
NM_025114.4(CEP290):c.1260_1264del (p.Lys421fs) |
DEL |
Pathogenic
|
1343 |
|
GRCh37: 12:88514869-88514873 GRCh38: 12:88121092-88121096 |
2 |
CEP290 |
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter) |
SNV |
Pathogenic
|
560436 |
rs1226324483 |
GRCh37: 12:88476860-88476860 GRCh38: 12:88083083-88083083 |
3 |
CEP290 |
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) |
SNV |
Pathogenic
|
1338 |
rs137852833 |
GRCh37: 12:88505097-88505097 GRCh38: 12:88111320-88111320 |
4 |
CEP290 |
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) |
SNV |
Pathogenic
|
217636 |
rs575767207 |
GRCh37: 12:88472889-88472889 GRCh38: 12:88079112-88079112 |
5 |
CEP290 |
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) |
SNV |
Pathogenic
Pathogenic
|
217626 |
rs539400286 |
GRCh37: 12:88479860-88479860 GRCh38: 12:88086083-88086083 |
6 |
CEP290 |
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) |
SNV |
Pathogenic
|
530911 |
rs776645403 |
GRCh37: 12:88519134-88519134 GRCh38: 12:88125357-88125357 |
7 |
CEP290 |
NM_025114.4(CEP290):c.133_136del (p.Gln45fs) |
DEL |
Pathogenic
|
1213970 |
|
GRCh37: 12:88534777-88534780 GRCh38: 12:88141000-88141003 |
8 |
CEP290 |
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) |
DEL |
Pathogenic
|
817139 |
rs1592807018 |
GRCh37: 12:88471480-88471480 GRCh38: 12:88077703-88077703 |
9 |
CEP290 |
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) |
DEL |
Pathogenic
|
56738 |
rs386834157 |
GRCh37: 12:88530474-88530477 GRCh38: 12:88136697-88136700 |
10 |
CEP290 |
NM_025114.4(CEP290):c.1711+1G>A |
SNV |
Pathogenic
|
156377 |
rs587783009 |
GRCh37: 12:88512259-88512259 GRCh38: 12:88118482-88118482 |
11 |
CEP290 |
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) |
SNV |
Pathogenic
|
156385 |
rs587783016 |
GRCh37: 12:88482934-88482934 GRCh38: 12:88089157-88089157 |
12 |
CEP290 |
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) |
SNV |
Pathogenic
|
217639 |
rs749439750 |
GRCh37: 12:88478545-88478545 GRCh38: 12:88084768-88084768 |
13 |
CEP290 |
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) |
DUP |
Pathogenic
|
156386 |
rs587783017 |
GRCh37: 12:88449443-88449444 GRCh38: 12:88055666-88055667 |
14 |
CEP290 |
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) |
SNV |
Pathogenic
|
1342 |
rs137852835 |
GRCh37: 12:88524101-88524101 GRCh38: 12:88130324-88130324 |
15 |
CEP290 |
NM_025114.4(CEP290):c.1666del (p.Ile556fs) |
DEL |
Pathogenic
|
217622 |
rs727503855 |
GRCh37: 12:88512305-88512305 GRCh38: 12:88118528-88118528 |
16 |
CEP290 |
NM_025114.4(CEP290):c.2390del (p.Lys797fs) |
DEL |
Pathogenic
|
438223 |
rs781670422 |
GRCh37: 12:88502936-88502936 GRCh38: 12:88109159-88109159 |
17 |
CEP290 |
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) |
SNV |
Pathogenic
|
99857 |
rs62638179 |
GRCh37: 12:88476854-88476854 GRCh38: 12:88083077-88083077 |
18 |
CEP290 |
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) |
SNV |
Pathogenic
|
56733 |
rs386834152 |
GRCh37: 12:88508265-88508265 GRCh38: 12:88114488-88114488 |
19 |
CEP290 |
NM_025114.4(CEP290):c.2991+1655A>G |
SNV |
Pathogenic
Pathogenic/Likely Pathogenic
|
1337 |
rs281865192 |
GRCh37: 12:88494960-88494960 GRCh38: 12:88101183-88101183 |
20 |
CEP290 |
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) |
MICROSAT |
Pathogenic
|
56729 |
rs386834148 |
GRCh37: 12:88514913-88514914 GRCh38: 12:88121136-88121137 |
21 |
CEP290 |
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) |
DEL |
Pathogenic
|
156378 |
rs587783010 |
GRCh37: 12:88505097-88505098 GRCh38: 12:88111320-88111321 |
22 |
CEP290 |
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) |
SNV |
Pathogenic
|
217635 |
rs376493409 |
GRCh37: 12:88476938-88476938 GRCh38: 12:88083161-88083161 |
23 |
CEP290 |
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) |
DEL |
Pathogenic
|
56739 |
rs386834158 |
GRCh37: 12:88471567-88471567 GRCh38: 12:88077790-88077790 |
24 |
CEP290 |
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) |
SNV |
Pathogenic
|
497937 |
rs760540562 |
GRCh37: 12:88452645-88452645 GRCh38: 12:88058868-88058868 |
25 |
CEP290 |
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) |
SNV |
Pathogenic
|
1333 |
rs137852832 |
GRCh37: 12:88471040-88471040 GRCh38: 12:88077263-88077263 |
26 |
CEP290 |
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) |
SNV |
Pathogenic
|
523768 |
rs1170451277 |
GRCh37: 12:88513984-88513984 GRCh38: 12:88120207-88120207 |
27 |
CEP290 |
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) |
SNV |
Pathogenic
|
654881 |
rs1290241933 |
GRCh37: 12:88530539-88530539 GRCh38: 12:88136762-88136762 |
28 |
CEP290 |
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) |
SNV |
Pathogenic
Pathogenic
|
1339 |
rs137852834 |
GRCh37: 12:88477713-88477713 GRCh38: 12:88083936-88083936 |
29 |
CEP290 |
NM_025114.4(CEP290):c.1066-1G>A |
SNV |
Pathogenic
|
439474 |
rs965522059 |
GRCh37: 12:88519147-88519147 GRCh38: 12:88125370-88125370 |
30 |
CEP290 |
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) |
DEL |
Pathogenic/Likely Pathogenic
|
197597 |
rs758329611 |
GRCh37: 12:88453716-88453716 GRCh38: 12:88059939-88059939 |
31 |
CEP290 |
NM_025114.4(CEP290):c.4813-2A>G |
SNV |
Likely Pathogenic
|
432415 |
rs369523378 |
GRCh37: 12:88477009-88477009 GRCh38: 12:88083232-88083232 |
32 |
CEP290 |
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs) |
MICROSAT |
Likely Pathogenic
|
960022 |
rs1177923180 |
GRCh37: 12:88449393-88449394 GRCh38: 12:88055616-88055617 |
33 |
CEP290 |
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) |
SNV |
Likely Pathogenic
|
197044 |
rs370119681 |
GRCh37: 12:88474003-88474003 GRCh38: 12:88080226-88080226 |
34 |
CEP290 |
NM_025114.4(CEP290):c.6277del (p.Val2093fs) |
DEL |
Likely Pathogenic
|
217621 |
rs771454167 |
GRCh37: 12:88456549-88456549 GRCh38: 12:88062772-88062772 |
35 |
CEP290 |
NM_025114.4(CEP290):c.4437+1G>A |
SNV |
Likely Pathogenic
|
285948 |
rs760915898 |
GRCh37: 12:88479815-88479815 GRCh38: 12:88086038-88086038 |
36 |
CEP290 |
NM_025114.4(CEP290):c.1523-412C>T |
SNV |
Likely Pathogenic
|
1065719 |
|
GRCh37: 12:88512932-88512932 GRCh38: 12:88119155-88119155 |
37 |
CEP290 |
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) |
SNV |
Likely Pathogenic
|
1179041 |
|
GRCh37: 12:88490683-88490683 GRCh38: 12:88096906-88096906 |
38 |
CEP290 |
NM_025114.4(CEP290):c.297+1G>A |
SNV |
Likely Pathogenic
|
829993 |
rs878853360 |
GRCh37: 12:88532921-88532921 GRCh38: 12:88139144-88139144 |
39 |
CEP290 |
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) |
MICROSAT |
Likely Pathogenic
|
804466 |
rs1592671672 |
GRCh37: 12:88523588-88523589 GRCh38: 12:88129811-88129812 |
40 |
CEP290 |
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) |
SNV |
Likely Pathogenic
|
813995 |
rs45502896 |
GRCh37: 12:88523494-88523494 GRCh38: 12:88129717-88129717 |
41 |
CEP290 |
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) |
SNV |
Likely Pathogenic
|
212730 |
rs797044604 |
GRCh37: 12:88480227-88480227 GRCh38: 12:88086450-88086450 |
42 |
CEP290 |
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) |
DEL |
Likely Pathogenic
|
618559 |
rs1213286417 |
GRCh37: 12:88482810-88482810 GRCh38: 12:88089033-88089033 |
43 |
CEP290 |
NM_025114.4(CEP290):c.4438-3del |
DEL |
Conflicting Interpretations Of Pathogenicity
|
449448 |
rs747323414 |
GRCh37: 12:88478632-88478632 GRCh38: 12:88084855-88084855 |
44 |
CEP290 |
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) |
SNV |
Uncertain Significance
|
880644 |
rs768864296 |
GRCh37: 12:88483129-88483129 GRCh38: 12:88089352-88089352 |
45 |
CEP290 |
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) |
SNV |
Uncertain Significance
|
880839 |
rs780990839 |
GRCh37: 12:88504998-88504998 GRCh38: 12:88111221-88111221 |
46 |
CEP290 |
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) |
SNV |
Uncertain Significance
|
881057 |
rs1295338042 |
GRCh37: 12:88519070-88519070 GRCh38: 12:88125293-88125293 |
47 |
CEP290 |
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) |
SNV |
Uncertain Significance
|
881099 |
rs200587974 |
GRCh37: 12:88523652-88523652 GRCh38: 12:88129875-88129875 |
48 |
CEP290 |
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) |
SNV |
Uncertain Significance
|
881296 |
rs761763799 |
GRCh37: 12:88472948-88472948 GRCh38: 12:88079171-88079171 |
49 |
CEP290 |
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) |
SNV |
Uncertain Significance
|
852603 |
rs199583200 |
GRCh37: 12:88505040-88505040 GRCh38: 12:88111263-88111263 |
50 |
CEP290 |
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) |
SNV |
Uncertain Significance
|
883013 |
rs568197175 |
GRCh37: 12:88478544-88478544 GRCh38: 12:88084767-88084767 |