1 |
JAGN1 |
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) |
SNV |
Pathogenic
|
156116 |
rs587777730 |
GRCh37: 3:9934994-9934994 GRCh38: 3:9893310-9893310 |
2 |
JAGN1 |
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) |
SNV |
Pathogenic
|
156114 |
rs587777728 |
GRCh37: 3:9934639-9934639 GRCh38: 3:9892955-9892955 |
3 |
JAGN1 |
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
156113 |
rs587777727 |
GRCh37: 3:9932409-9932409 GRCh38: 3:9890725-9890725 |
4 |
JAGN1 |
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) |
SNV |
Uncertain Significance
|
156115 |
rs587777729 |
GRCh37: 3:9932469-9932469 GRCh38: 3:9890785-9890785 |
5 |
JAGN1 |
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) |
DEL |
Uncertain Significance
|
156117 |
rs587777731 |
GRCh37: 3:9932436-9932444 GRCh38: 3:9890752-9890760 |
6 |
JAGN1 |
NM_032492.4(JAGN1):c.519G>T (p.Trp173Cys) |
SNV |
Uncertain Significance
|
1370140 |
|
GRCh37: 3:9935028-9935028 GRCh38: 3:9893344-9893344 |
7 |
JAGN1 |
NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe) |
SNV |
Uncertain Significance
|
1402910 |
|
GRCh37: 3:9934693-9934693 GRCh38: 3:9893009-9893009 |
8 |
JAGN1 |
NM_032492.4(JAGN1):c.542A>G (p.Lys181Arg) |
SNV |
Uncertain Significance
|
1361485 |
|
GRCh37: 3:9935051-9935051 GRCh38: 3:9893367-9893367 |
9 |
JAGN1 |
NM_032492.4(JAGN1):c.389A>G (p.Tyr130Cys) |
SNV |
Uncertain Significance
|
1366171 |
|
GRCh37: 3:9934898-9934898 GRCh38: 3:9893214-9893214 |
10 |
JAGN1 |
NM_032492.4(JAGN1):c.145C>G (p.Leu49Val) |
SNV |
Uncertain Significance
|
1480106 |
|
GRCh37: 3:9934654-9934654 GRCh38: 3:9892970-9892970 |
11 |
JAGN1 |
NM_032492.4(JAGN1):c.11G>T (p.Arg4Leu) |
SNV |
Uncertain Significance
|
1467577 |
|
GRCh37: 3:9932417-9932417 GRCh38: 3:9890733-9890733 |
12 |
JAGN1 |
NM_032492.4(JAGN1):c.260T>C (p.Leu87Ser) |
SNV |
Uncertain Significance
|
1499691 |
|
GRCh37: 3:9934769-9934769 GRCh38: 3:9893085-9893085 |
13 |
JAGN1 |
NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg) |
SNV |
Uncertain Significance
|
475243 |
rs919986813 |
GRCh37: 3:9934681-9934681 GRCh38: 3:9892997-9892997 |
14 |
JAGN1 |
NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln) |
SNV |
Uncertain Significance
|
475249 |
rs754191323 |
GRCh37: 3:9935050-9935050 GRCh38: 3:9893366-9893366 |
15 |
JAGN1 |
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) |
SNV |
Uncertain Significance
|
475247 |
rs150797085 |
GRCh37: 3:9932441-9932441 GRCh38: 3:9890757-9890757 |
16 |
JAGN1 |
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr) |
SNV |
Uncertain Significance
|
475244 |
rs200023062 |
GRCh37: 3:9934720-9934720 GRCh38: 3:9893036-9893036 |
17 |
JAGN1 |
NM_032492.4(JAGN1):c.71C>T (p.Ala24Val) |
SNV |
Uncertain Significance
|
577875 |
rs377495463 |
GRCh37: 3:9932477-9932477 GRCh38: 3:9890793-9890793 |
18 |
JAGN1 |
NC_000003.11:g.(?_9932387)_(9935081_?)dup |
DUP |
Uncertain Significance
|
584197 |
|
GRCh37: 3:9932387-9935081 GRCh38: 3:9890703-9893397 |
19 |
JAGN1 |
NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp) |
SNV |
Uncertain Significance
|
649136 |
rs1575466167 |
GRCh37: 3:9932447-9932447 GRCh38: 3:9890763-9890763 |
20 |
JAGN1 |
NM_032492.4(JAGN1):c.433G>A (p.Val145Ile) |
SNV |
Uncertain Significance
|
649445 |
rs759636820 |
GRCh37: 3:9934942-9934942 GRCh38: 3:9893258-9893258 |
21 |
JAGN1 |
NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr) |
SNV |
Uncertain Significance
|
658417 |
rs1177521463 |
GRCh37: 3:9932452-9932452 GRCh38: 3:9890768-9890768 |
22 |
JAGN1 |
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro) |
SNV |
Uncertain Significance
|
666030 |
rs569985954 |
GRCh37: 3:9932417-9932417 GRCh38: 3:9890733-9890733 |
23 |
JAGN1 |
NM_032492.4(JAGN1):c.179T>C (p.Leu60Pro) |
SNV |
Uncertain Significance
|
839671 |
rs1297627583 |
GRCh37: 3:9934688-9934688 GRCh38: 3:9893004-9893004 |
24 |
JAGN1 |
NM_032492.4(JAGN1):c.64C>T (p.Arg22Cys) |
SNV |
Uncertain Significance
|
841147 |
rs146967886 |
GRCh37: 3:9932470-9932470 GRCh38: 3:9890786-9890786 |
25 |
JAGN1 |
NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del) |
MICROSAT |
Uncertain Significance
|
843940 |
rs756989255 |
GRCh37: 3:9935045-9935047 GRCh38: 3:9893361-9893363 |
26 |
JAGN1 |
NM_032492.4(JAGN1):c.392G>A (p.Arg131His) |
SNV |
Uncertain Significance
|
847039 |
rs542419840 |
GRCh37: 3:9934901-9934901 GRCh38: 3:9893217-9893217 |
27 |
JAGN1 |
NM_032492.4(JAGN1):c.280C>G (p.Arg94Gly) |
SNV |
Uncertain Significance
|
848863 |
rs866176976 |
GRCh37: 3:9934789-9934789 GRCh38: 3:9893105-9893105 |
28 |
JAGN1 |
NM_032492.4(JAGN1):c.394C>T (p.His132Tyr) |
SNV |
Uncertain Significance
|
858153 |
rs1444848644 |
GRCh37: 3:9934903-9934903 GRCh38: 3:9893219-9893219 |
29 |
JAGN1 |
NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter) |
SNV |
Uncertain Significance
|
939939 |
rs771407343 |
GRCh37: 3:9934888-9934888 GRCh38: 3:9893204-9893204 |
30 |
JAGN1 |
NM_032492.4(JAGN1):c.56A>G (p.His19Arg) |
SNV |
Uncertain Significance
|
943976 |
rs748123071 |
GRCh37: 3:9932462-9932462 GRCh38: 3:9890778-9890778 |
31 |
JAGN1 |
NM_032492.4(JAGN1):c.70_76del (p.Ala24fs) |
DEL |
Uncertain Significance
|
947595 |
rs2082557086 |
GRCh37: 3:9932475-9932481 GRCh38: 3:9890791-9890797 |
32 |
JAGN1 |
NM_032492.4(JAGN1):c.90T>C (p.Ser30=) |
SNV |
Uncertain Significance
|
966622 |
rs201225696 |
GRCh37: 3:9934599-9934599 GRCh38: 3:9892915-9892915 |
33 |
JAGN1 |
NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg) |
SNV |
Uncertain Significance
|
1002786 |
rs749080431 |
GRCh37: 3:9935012-9935012 GRCh38: 3:9893328-9893328 |
34 |
JAGN1 |
NM_032492.4(JAGN1):c.346A>G (p.Ile116Val) |
SNV |
Uncertain Significance
|
1006422 |
rs1467031121 |
GRCh37: 3:9934855-9934855 GRCh38: 3:9893171-9893171 |
35 |
JAGN1 |
NM_032492.4(JAGN1):c.317G>A (p.Ser106Asn) |
SNV |
Uncertain Significance
|
1011467 |
rs2082574453 |
GRCh37: 3:9934826-9934826 GRCh38: 3:9893142-9893142 |
36 |
JAGN1 |
NM_032492.4(JAGN1):c.517T>A (p.Trp173Arg) |
SNV |
Uncertain Significance
|
1017842 |
rs2082575975 |
GRCh37: 3:9935026-9935026 GRCh38: 3:9893342-9893342 |
37 |
JAGN1 |
NM_032492.4(JAGN1):c.127G>A (p.Val43Ile) |
SNV |
Uncertain Significance
|
1020952 |
rs778975542 |
GRCh37: 3:9934636-9934636 GRCh38: 3:9892952-9892952 |
38 |
JAGN1 |
NM_032492.4(JAGN1):c.205G>A (p.Ala69Thr) |
SNV |
Uncertain Significance
|
1047313 |
rs2082573376 |
GRCh37: 3:9934714-9934714 GRCh38: 3:9893030-9893030 |
39 |
JAGN1 |
NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly) |
SNV |
Uncertain Significance
|
1055949 |
|
GRCh37: 3:9932449-9932449 GRCh38: 3:9890765-9890765 |
40 |
JAGN1 |
NM_032492.4(JAGN1):c.89+4T>C |
SNV |
Uncertain Significance
|
1057517 |
|
GRCh37: 3:9932499-9932499 GRCh38: 3:9890815-9890815 |
41 |
JAGN1 |
NM_032492.4(JAGN1):c.77A>T (p.His26Leu) |
SNV |
Uncertain Significance
|
1060531 |
|
GRCh37: 3:9932483-9932483 GRCh38: 3:9890799-9890799 |
42 |
JAGN1 |
NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg) |
SNV |
Uncertain Significance
|
1388265 |
|
GRCh37: 3:9934930-9934930 GRCh38: 3:9893246-9893246 |
43 |
JAGN1 |
NM_032492.4(JAGN1):c.111C>G (p.Ile37Met) |
SNV |
Uncertain Significance
|
1371122 |
|
GRCh37: 3:9934620-9934620 GRCh38: 3:9892936-9892936 |
44 |
JAGN1 |
NM_032492.4(JAGN1):c.496A>T (p.Ser166Cys) |
SNV |
Uncertain Significance
|
1403166 |
|
GRCh37: 3:9935005-9935005 GRCh38: 3:9893321-9893321 |
45 |
JAGN1 |
NM_032492.4(JAGN1):c.334A>G (p.Ile112Val) |
SNV |
Uncertain Significance
|
1409634 |
|
GRCh37: 3:9934843-9934843 GRCh38: 3:9893159-9893159 |
46 |
JAGN1 |
NM_032492.4(JAGN1):c.522C>G (p.Phe174Leu) |
SNV |
Uncertain Significance
|
1400765 |
|
GRCh37: 3:9935031-9935031 GRCh38: 3:9893347-9893347 |
47 |
JAGN1 |
NM_032492.4(JAGN1):c.319A>G (p.Met107Val) |
SNV |
Uncertain Significance
|
1489464 |
|
GRCh37: 3:9934828-9934828 GRCh38: 3:9893144-9893144 |
48 |
JAGN1 |
NM_032492.4(JAGN1):c.163A>T (p.Met55Leu) |
SNV |
Uncertain Significance
|
1486200 |
|
GRCh37: 3:9934672-9934672 GRCh38: 3:9892988-9892988 |
49 |
JAGN1 |
NM_032492.4(JAGN1):c.193C>T (p.His65Tyr) |
SNV |
Uncertain Significance
|
1480459 |
|
GRCh37: 3:9934702-9934702 GRCh38: 3:9893018-9893018 |
50 |
JAGN1 |
NM_032492.4(JAGN1):c.124T>C (p.Tyr42His) |
SNV |
Uncertain Significance
|
1512903 |
|
GRCh37: 3:9934633-9934633 GRCh38: 3:9892949-9892949 |