1 |
CLCN2 |
NM_004366.6(CLCN2):c.1397-1G>A |
SNV |
Pathogenic
|
813301 |
rs1478304584 |
GRCh37: 3:184072447-184072447 GRCh38: 3:184354659-184354659 |
2 |
CLCN2 |
NM_004366.6(CLCN2):c.985_986del (p.Ile329fs) |
DEL |
Pathogenic
|
1032901 |
rs1245141384 |
GRCh37: 3:184074880-184074881 GRCh38: 3:184357092-184357093 |
3 |
CLCN2 |
NM_004366.6(CLCN2):c.828dup (p.Arg277fs) |
DUP |
Pathogenic
|
100632 |
rs587777112 |
GRCh37: 3:184075219-184075220 GRCh38: 3:184357431-184357432 |
4 |
CLCN2 |
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) |
DEL |
Pathogenic
|
1279936 |
|
GRCh37: 3:184075588-184075592 GRCh38: 3:184357800-184357804 |
5 |
CLCN2 |
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) |
SNV |
Pathogenic
|
100629 |
rs201330912 |
GRCh37: 3:184071901-184071901 GRCh38: 3:184354113-184354113 |
6 |
CLCN2 |
NM_004366.6(CLCN2):c.430_435del (p.Leu144_Ile145del) |
DEL |
Pathogenic
|
100630 |
rs587777110 |
GRCh37: 3:184076016-184076021 GRCh38: 3:184358228-184358233 |
7 |
CLCN2 |
NM_004366.6(CLCN2):c.1499C>T (p.Ala500Val) |
SNV |
Pathogenic
|
100631 |
rs587777111 |
GRCh37: 3:184072344-184072344 GRCh38: 3:184354556-184354556 |
8 |
CLCN2 |
NM_004366.6(CLCN2):c.597dup (p.Met200fs) |
DUP |
Likely Pathogenic
|
9035 |
rs515726131 |
GRCh37: 3:184075767-184075768 GRCh38: 3:184357979-184357980 |
9 |
CLCN2 |
NM_004366.6(CLCN2):c.221-14_221-4del |
DEL |
Uncertain Significance
|
9036 |
rs515726132 |
GRCh37: 3:184076605-184076615 GRCh38: 3:184358817-184358827 |
10 |
CLCN2 |
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) |
SNV |
Uncertain Significance
Uncertain Significance
|
9038 |
rs71318369 |
GRCh37: 3:184075476-184075476 GRCh38: 3:184357688-184357688 |
11 |
CLCN2 |
NM_004366.6(CLCN2):c.218G>A (p.Arg73His) |
SNV |
Uncertain Significance
|
217770 |
rs144412275 |
GRCh37: 3:184076765-184076765 GRCh38: 3:184358977-184358977 |
12 |
CLCN2 |
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp) |
SNV |
Benign
|
217779 |
rs114702742 |
GRCh37: 3:184070569-184070569 GRCh38: 3:184352781-184352781 |
13 |
CLCN2 |
NM_004366.6(CLCN2):c.1856-3C>T |
SNV |
Not Provided
|
217773 |
rs371193424 |
GRCh37: 3:184071213-184071213 GRCh38: 3:184353425-184353425 |
14 |
CLCN2 |
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) |
SNV |
Not Provided
|
217777 |
rs111656822 |
GRCh37: 3:184070901-184070901 GRCh38: 3:184353113-184353113 |
15 |
CLCN2 |
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) |
SNV |
Not Provided
|
217774 |
rs148545588 |
GRCh37: 3:184071136-184071136 GRCh38: 3:184353348-184353348 |
16 |
CLCN2 |
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val) |
SNV |
Not Provided
|
217782 |
rs781034991 |
GRCh37: 3:184070112-184070112 GRCh38: 3:184352324-184352324 |
17 |
CLCN2 |
NM_004366.6(CLCN2):c.292G>C (p.Gly98Arg) |
SNV |
Not Provided
|
217784 |
rs863225249 |
GRCh37: 3:184076530-184076530 GRCh38: 3:184358742-184358742 |
18 |
CLCN2 |
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) |
SNV |
Not Provided
|
217794 |
rs141242566 |
GRCh37: 3:184071510-184071510 GRCh38: 3:184353722-184353722 |
19 |
CLCN2 |
NM_004366.6(CLCN2):c.1015G>C (p.Val339Leu) |
SNV |
Not Provided
|
217786 |
rs532632165 |
GRCh37: 3:184074851-184074851 GRCh38: 3:184357063-184357063 |
20 |
CLCN2 |
NM_004366.6(CLCN2):c.596G>C (p.Gly199Ala) |
SNV |
Not Provided
|
217772 |
rs863225248 |
GRCh37: 3:184075769-184075769 GRCh38: 3:184357981-184357981 |
21 |
CLCN2 |
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp) |
SNV |
Not Provided
|
217778 |
rs2228292 |
GRCh37: 3:184070588-184070588 GRCh38: 3:184352800-184352800 |
22 |
CLCN2 |
NM_004366.6(CLCN2):c.2386C>T (p.Gln796Ter) |
SNV |
Not Provided
|
217796 |
rs376823689 |
GRCh37: 3:184069830-184069830 GRCh38: 3:184352042-184352042 |
23 |
CLCN2 |
NM_004366.6(CLCN2):c.2003C>G (p.Thr668Ser) |
SNV |
Not Provided
|
217776 |
rs9820367 |
GRCh37: 3:184071063-184071063 GRCh38: 3:184353275-184353275 |
24 |
CLCN2 |
NM_004366.6(CLCN2):c.2273G>A (p.Ser758Asn) |
SNV |
Not Provided
|
217781 |
rs753380048 |
GRCh37: 3:184070118-184070118 GRCh38: 3:184352330-184352330 |
25 |
CLCN2 |
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu) |
SNV |
Not Provided
|
217771 |
rs140463309 |
GRCh37: 3:184076576-184076576 GRCh38: 3:184358788-184358788 |
26 |
CLCN2 |
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg) |
SNV |
Not Provided
|
217768 |
rs115661422 |
GRCh37: 3:184076840-184076840 GRCh38: 3:184359052-184359052 |
27 |
CLCN2 |
NM_004366.6(CLCN2):c.1397G>A (p.Gly466Glu) |
SNV |
Not Provided
|
217790 |
rs863225254 |
GRCh37: 3:184072446-184072446 GRCh38: 3:184354658-184354658 |
28 |
CLCN2 |
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) |
SNV |
Not Provided
|
9039 |
rs137852682 |
GRCh37: 3:184071575-184071575 GRCh38: 3:184353787-184353787 |
29 |
CLCN2 |
NM_004366.6(CLCN2):c.203G>A (p.Arg68His) |
SNV |
Not Provided
|
217769 |
rs61729156 |
GRCh37: 3:184076780-184076780 GRCh38: 3:184358992-184358992 |
30 |
CLCN2 |
NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter) |
SNV |
Not Provided
|
217785 |
rs863225250 |
GRCh37: 3:184075028-184075028 GRCh38: 3:184357240-184357240 |
31 |
CLCN2 |
NM_004366.6(CLCN2):c.1507G>A (p.Gly503Arg) |
SNV |
Not Provided
|
217793 |
rs777105668 |
GRCh37: 3:184072336-184072336 GRCh38: 3:184354548-184354548 |
32 |
CLCN2 |
NM_004366.6(CLCN2):c.2144G>A (p.Gly715Glu) |
SNV |
Not Provided
|
9037 |
rs137852681 |
GRCh37: 3:184070598-184070598 GRCh38: 3:184352810-184352810 |
33 |
CLCN2 |
NM_004366.6(CLCN2):c.1957A>T (p.Arg653Ter) |
SNV |
Not Provided
|
217795 |
rs863225256 |
GRCh37: 3:184071109-184071109 GRCh38: 3:184353321-184353321 |
34 |
CLCN2 |
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) |
SNV |
Not Provided
|
217775 |
rs115961753 |
GRCh37: 3:184071129-184071129 GRCh38: 3:184353341-184353341 |
35 |
CLCN2 |
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His) |
SNV |
Not Provided
|
217791 |
rs771507094 |
GRCh37: 3:184072431-184072431 GRCh38: 3:184354643-184354643 |
36 |
CLCN2 |
NM_004366.6(CLCN2):c.130G>A (p.Gly44Arg) |
SNV |
Not Provided
|
217767 |
rs863225247 |
GRCh37: 3:184076853-184076853 GRCh38: 3:184359065-184359065 |
37 |
CLCN2 |
NM_004366.6(CLCN2):c.1143del (p.Gly382fs) |
DEL |
Not Provided
|
217788 |
rs863225252 |
GRCh37: 3:184073509-184073509 GRCh38: 3:184355721-184355721 |
38 |
CLCN2 |
NM_004366.6(CLCN2):c.1304del (p.Leu435fs) |
DEL |
Not Provided
|
217789 |
rs863225253 |
GRCh37: 3:184073184-184073184 GRCh38: 3:184355396-184355396 |
39 |
CLCN2 |
NM_004366.6(CLCN2):c.1422_1423del (p.Glu475fs) |
DEL |
Not Provided
|
217792 |
rs863225255 |
GRCh37: 3:184072420-184072421 GRCh38: 3:184354632-184354633 |
40 |
CLCN2 |
NM_004366.6(CLCN2):c.1113delinsACTGCTCAT (p.Ser375fs) |
INDEL |
Not Provided
|
217787 |
rs863225251 |
GRCh37: 3:184073539-184073539 GRCh38: 3:184355751-184355751 |
41 |
CLCN2 |
NM_004366.6(CLCN2):c.64-1107_639del |
DEL |
Not Provided
|
217783 |
|
GRCh37: 3:184075621-184078026 GRCh38: 3:184357833-184360238 |
42 |
CLCN2 |
NM_004366.6(CLCN2):c.2240G>A (p.Arg747His) |
SNV |
Not Provided
|
217780 |
rs144164281 |
GRCh37: 3:184070262-184070262 GRCh38: 3:184352474-184352474 |