1 |
CFL2 |
NC_000014.9:g.(?_34712845)_(34714560_?)del | ‎‎
deletion |
Pathogenic |
583485 |
|
14:35182051-35183766 |
14:34712845-34714560 |
2 |
CFL2 |
NC_000014.9:g.(?_34710372)_(34713686_?)del | ‎‎
deletion |
Pathogenic |
657372 |
|
14:35179578-35182892 |
14:34710372-34713686 |
3 |
CFL2 |
NM_138638.5(CFL2):c.338del (p.Ser113fs) | ‎‎
deletion |
Pathogenic |
800930 |
|
14:35182316-35182316 |
14:34713110-34713110 |
4 |
CFL2 |
NM_138638.5(CFL2):c.103G>A (p.Ala35Thr) | ‎‎
SNV |
Pathogenic |
8160 |
rs80358250 |
14:35182668-35182668 |
14:34713462-34713462 |
5 |
CFL2 |
NM_138638.5(CFL2):c.21G>A (p.Val7=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
195369 |
rs149700171 |
14:35182750-35182750 |
14:34713544-34713544 |
6 |
CFL2 |
NM_138638.5(CFL2):c.4-198A>G | ‎‎
SNV |
Uncertain significance |
313098 |
rs143465827 |
14:35182965-35182965 |
14:34713759-34713759 |
7 |
CFL2 |
NM_138638.5(CFL2):c.76C>G (p.Gln26Glu) | ‎‎
SNV |
Uncertain significance |
882972 |
|
14:35182695-35182695 |
14:34713489-34713489 |
8 |
CFL2 |
NM_138638.5(CFL2):c.19G>A (p.Val7Met) | ‎‎
SNV |
Uncertain significance |
60554 |
rs397515451 |
14:35182752-35182752 |
14:34713546-34713546 |
9 |
CFL2 |
NM_138638.5(CFL2):c.457T>G (p.Leu153Val) | ‎‎
SNV |
Uncertain significance |
128713 |
rs587780312 |
14:35182115-35182115 |
14:34712909-34712909 |
10 |
CFL2 |
NM_138638.5(CFL2):c.*473A>G | ‎‎
SNV |
Uncertain significance |
881820 |
|
14:35181598-35181598 |
14:34712392-34712392 |
11 |
CFL2 |
NM_138638.5(CFL2):c.*281A>G | ‎‎
SNV |
Uncertain significance |
882970 |
|
14:35181790-35181790 |
14:34712584-34712584 |
12 |
CFL2 |
NM_138638.5(CFL2):c.*995T>C | ‎‎
SNV |
Uncertain significance |
313087 |
rs749572493 |
14:35181076-35181076 |
14:34711870-34711870 |
13 |
CFL2 |
NM_138638.5(CFL2):c.*541A>G | ‎‎
SNV |
Uncertain significance |
313090 |
rs144345993 |
14:35181530-35181530 |
14:34712324-34712324 |
14 |
CFL2 |
NM_138638.5(CFL2):c.*362G>A | ‎‎
SNV |
Uncertain significance |
313092 |
rs553554454 |
14:35181709-35181709 |
14:34712503-34712503 |
15 |
CFL2 |
NM_138638.5(CFL2):c.*718A>G | ‎‎
SNV |
Uncertain significance |
313089 |
rs886050474 |
14:35181353-35181353 |
14:34712147-34712147 |
16 |
CFL2 |
NM_138638.5(CFL2):c.*2340T>G | ‎‎
SNV |
Uncertain significance |
313075 |
rs886050473 |
14:35179731-35179731 |
14:34710525-34710525 |
17 |
CFL2 |
NC_000014.9:g.(?_34710372)_(34713686_?)dup | ‎‎
duplication |
Uncertain significance |
833241 |
|
14:35179578-35182892 |
|
18 |
CFL2 |
NM_138638.5(CFL2):c.17C>G (p.Thr6Arg) | ‎‎
SNV |
Uncertain significance |
840465 |
|
14:35182754-35182754 |
14:34713548-34713548 |
19 |
CFL2 |
NM_138638.5(CFL2):c.*2248G>A | ‎‎
SNV |
Uncertain significance |
882916 |
|
14:35179823-35179823 |
14:34710617-34710617 |
20 |
CFL2 |
NM_138638.5(CFL2):c.*1886G>A | ‎‎
SNV |
Uncertain significance |
882917 |
|
14:35180185-35180185 |
14:34710979-34710979 |
21 |
CFL2 |
NM_138638.5(CFL2):c.*1810T>A | ‎‎
SNV |
Uncertain significance |
883712 |
|
14:35180261-35180261 |
14:34711055-34711055 |
22 |
CFL2 |
NM_138638.5(CFL2):c.*1759A>G | ‎‎
SNV |
Uncertain significance |
883713 |
|
14:35180312-35180312 |
14:34711106-34711106 |
23 |
CFL2 |
NM_138638.5(CFL2):c.*1620T>C | ‎‎
SNV |
Uncertain significance |
883714 |
|
14:35180451-35180451 |
14:34711245-34711245 |
24 |
CFL2 |
NM_138638.5(CFL2):c.*1507C>T | ‎‎
SNV |
Uncertain significance |
883715 |
|
14:35180564-35180564 |
14:34711358-34711358 |
25 |
CFL2 |
NM_138638.5(CFL2):c.388G>C (p.Gly130Arg) | ‎‎
SNV |
Uncertain significance |
583009 |
rs1566525113 |
14:35182266-35182266 |
14:34713060-34713060 |
26 |
CFL2 |
NC_000014.8:g.(?_35182051)_(35183766_?)dup | ‎‎
duplication |
Uncertain significance |
583711 |
|
14:35182051-35183766 |
14:34712845-34714560 |
27 |
CFL2 |
NM_138638.5(CFL2):c.471_473AGT[1] (p.Val159del) | ‎‎
short repeat |
Uncertain significance |
662117 |
|
14:35182096-35182098 |
14:34712890-34712892 |
28 |
CFL2 |
NM_138638.5(CFL2):c.328C>T (p.Pro110Ser) | ‎‎
SNV |
Uncertain significance |
650607 |
|
14:35182326-35182326 |
14:34713120-34713120 |
29 |
CFL2 |
NM_138638.5(CFL2):c.54G>A (p.Met18Ile) | ‎‎
SNV |
Uncertain significance |
661578 |
|
14:35182717-35182717 |
14:34713511-34713511 |
30 |
CFL2 |
NM_138638.5(CFL2):c.*1030C>G | ‎‎
SNV |
Uncertain significance |
881372 |
|
14:35181041-35181041 |
14:34711835-34711835 |
31 |
CFL2 |
NM_138638.5(CFL2):c.*738A>G | ‎‎
SNV |
Uncertain significance |
881374 |
|
14:35181333-35181333 |
14:34712127-34712127 |
32 |
CFL2 |
NM_138638.5(CFL2):c.*720A>T | ‎‎
SNV |
Uncertain significance |
881375 |
|
14:35181351-35181351 |
14:34712145-34712145 |
33 |
CFL2 |
NM_138638.5(CFL2):c.*293G>A | ‎‎
SNV |
Uncertain significance |
313093 |
rs774843860 |
14:35181778-35181778 |
14:34712572-34712572 |
34 |
CFL2 |
NM_138638.5(CFL2):c.4-172C>T | ‎‎
SNV |
Uncertain significance |
313097 |
rs190226324 |
14:35182939-35182939 |
14:34713733-34713733 |
35 |
CFL2 |
NM_138638.5(CFL2):c.*1070G>A | ‎‎
SNV |
Uncertain significance |
313085 |
rs767101584 |
14:35181001-35181001 |
14:34711795-34711795 |
36 |
CFL2 |
NM_138638.5(CFL2):c.*2284C>T | ‎‎
SNV |
Uncertain significance |
313076 |
rs372609152 |
14:35179787-35179787 |
14:34710581-34710581 |
37 |
CFL2 |
NM_138638.5(CFL2):c.*1885C>T | ‎‎
SNV |
Uncertain significance |
313081 |
rs775859581 |
14:35180186-35180186 |
14:34710980-34710980 |
38 |
CFL2 |
NM_138638.5(CFL2):c.*1036G>A | ‎‎
SNV |
Uncertain significance |
313086 |
rs150492527 |
14:35181035-35181035 |
14:34711829-34711829 |
39 |
CFL2 |
NM_138638.5(CFL2):c.*671C>T | ‎‎
SNV |
Likely benign |
881818 |
|
14:35181400-35181400 |
14:34712194-34712194 |
40 |
CFL2 |
NM_138638.5(CFL2):c.*605T>C | ‎‎
SNV |
Likely benign |
881819 |
|
14:35181466-35181466 |
14:34712260-34712260 |
41 |
CFL2 |
NM_138638.5(CFL2):c.*905A>G | ‎‎
SNV |
Likely benign |
881373 |
|
14:35181166-35181166 |
14:34711960-34711960 |
42 |
CFL2 |
NM_138638.5(CFL2):c.389-9del | ‎‎
deletion |
Likely benign |
465805 |
rs1555333750 |
14:35182192-35182192 |
14:34712986-34712986 |
43 |
CFL2 |
NM_138638.5(CFL2):c.276A>G (p.Lys92=) | ‎‎
SNV |
Likely benign |
753309 |
|
14:35182495-35182495 |
14:34713289-34713289 |
44 |
CFL2 |
NM_138638.5(CFL2):c.495A>G (p.Pro165=) | ‎‎
SNV |
Likely benign |
743607 |
|
14:35182077-35182077 |
14:34712871-34712871 |
45 |
CFL2 |
NM_138638.5(CFL2):c.*1268C>T | ‎‎
SNV |
Likely benign |
883716 |
|
14:35180803-35180803 |
14:34711597-34711597 |
46 |
CFL2 |
NM_138638.5(CFL2):c.*40A>G | ‎‎
SNV |
Likely benign |
882971 |
|
14:35182031-35182031 |
14:34712825-34712825 |
47 |
CFL2 |
NM_138638.5(CFL2):c.255C>T (p.Tyr85=) | ‎‎
SNV |
Likely benign |
390982 |
rs1057523939 |
14:35182516-35182516 |
14:34713310-34713310 |
48 |
CFL2 |
NM_138638.5(CFL2):c.15T>C (p.Val5=) | ‎‎
SNV |
Benign/Likely benign |
261430 |
rs542840152 |
14:35182756-35182756 |
14:34713550-34713550 |
49 |
CFL2 |
NM_138638.5(CFL2):c.*1682A>T | ‎‎
SNV |
Benign |
313082 |
rs712301 |
14:35180389-35180389 |
14:34711183-34711183 |
50 |
CFL2 |
NM_138638.5(CFL2):c.*925T>C | ‎‎
SNV |
Benign |
313088 |
rs11539496 |
14:35181146-35181146 |
14:34711940-34711940 |