1 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) |
SNV |
Pathogenic |
30413 |
rs387906885 |
9:139996059-139996059 |
9:137101607-137101607 |
2 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter) |
SNV |
Pathogenic |
30414 |
rs1564311909 |
9:140000740-140000740 |
9:137106288-137106288 |
3 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1274_1275CA[1] (p.Gln426fs) |
Microsatellite |
Pathogenic |
203378 |
rs794729645 |
9:140000595-140000596 |
9:137106143-137106144 |
4 |
MAN1B1 |
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter) |
Duplication |
Pathogenic |
802546 |
rs1377102705 |
9:139981629-139981630 |
9:137087177-137087178 |
5 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro) |
SNV |
Pathogenic |
983290 |
|
9:139996095-139996095 |
9:137101643-137101643 |
6 |
MAN1B1 |
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter) |
SNV |
Pathogenic |
816942 |
rs753503405 |
9:139981623-139981623 |
9:137087171-137087171 |
7 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1445+2_1445+5del |
Deletion |
Pathogenic |
983293 |
|
9:140000767-140000770 |
9:137106315-137106318 |
8 |
MAN1B1 |
NG_031978.1:g.8539_14992del |
Deletion |
Pathogenic |
983294 |
|
|
|
9 |
MAN1B1 |
NM_016219.5(MAN1B1):c.621-2A>G |
SNV |
Pathogenic |
983295 |
|
9:139992278-139992278 |
9:137097826-137097826 |
10 |
MAN1B1 |
NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs) |
Deletion |
Pathogenic |
983297 |
|
9:139994175-139994178 |
9:137099723-137099726 |
11 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1311del (p.Leu438fs) |
Deletion |
Pathogenic |
983298 |
|
9:140000631-140000631 |
9:137106179-137106179 |
12 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) |
SNV |
Pathogenic |
30415 |
rs387906886 |
9:139995540-139995540 |
9:137101088-137101088 |
13 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs) |
Deletion |
Pathogenic |
521615 |
rs1382373816 |
9:140002051-140002052 |
9:137107599-137107600 |
14 |
MAN1B1 |
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) |
Deletion |
Likely pathogenic |
211429 |
rs797045688 |
9:139990752-139990764 |
9:137096300-137096312 |
15 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter) |
SNV |
Likely pathogenic |
495322 |
rs1164484724 |
9:140002885-140002885 |
9:137108433-137108433 |
16 |
MAN1B1 |
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) |
SNV |
Conflicting interpretations of pathogenicity |
749399 |
rs750236367 |
9:139994299-139994299 |
9:137099847-137099847 |
17 |
MAN1B1 |
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) |
SNV |
Conflicting interpretations of pathogenicity |
365954 |
rs145906530 |
9:139994185-139994185 |
9:137099733-137099733 |
18 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) |
SNV |
Conflicting interpretations of pathogenicity |
595523 |
rs150942110 |
9:140000634-140000634 |
9:137106182-137106182 |
19 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) |
SNV |
Conflicting interpretations of pathogenicity |
435805 |
rs145704211 |
9:139996043-139996043 |
9:137101591-137101591 |
20 |
MAN1B1 |
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) |
SNV |
Conflicting interpretations of pathogenicity |
211430 |
rs186504463 |
9:139992294-139992294 |
9:137097842-137097842 |
21 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) |
SNV |
Conflicting interpretations of pathogenicity |
211420 |
rs138658585 |
9:140000755-140000755 |
9:137106303-137106303 |
22 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) |
SNV |
Conflicting interpretations of pathogenicity |
211422 |
rs146417316 |
9:140002018-140002018 |
9:137107566-137107566 |
23 |
MAN1B1 |
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) |
SNV |
Conflicting interpretations of pathogenicity |
798643 |
rs199738190 |
9:139983418-139983418 |
9:137088966-137088966 |
24 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) |
SNV |
Conflicting interpretations of pathogenicity |
435808 |
rs376968555 |
9:140001877-140001877 |
9:137107425-137107425 |
25 |
MAN1B1 |
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) |
SNV |
Conflicting interpretations of pathogenicity |
129571 |
rs181795958 |
9:140002963-140002963 |
9:137108511-137108511 |
26 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met) |
SNV |
Uncertain significance |
435811 |
rs200428790 |
9:140002934-140002934 |
9:137108482-137108482 |
27 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) |
SNV |
Uncertain significance |
365968 |
rs372125925 |
9:140001830-140001830 |
9:137107378-137107378 |
28 |
MAN1B1 |
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) |
SNV |
Uncertain significance |
365950 |
rs564784943 |
9:139992316-139992316 |
9:137097864-137097864 |
29 |
MAN1B1 |
NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly) |
SNV |
Uncertain significance |
849368 |
|
9:139992336-139992336 |
9:137097884-137097884 |
30 |
MAN1B1 |
NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile) |
SNV |
Uncertain significance |
855081 |
|
9:139992348-139992348 |
9:137097896-137097896 |
31 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys) |
SNV |
Uncertain significance |
915201 |
|
9:140002919-140002919 |
9:137108467-137108467 |
32 |
MAN1B1 |
NM_016219.5(MAN1B1):c.*587C>G |
SNV |
Uncertain significance |
915239 |
|
9:140003630-140003630 |
9:137109178-137109178 |
33 |
MAN1B1 |
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val) |
SNV |
Uncertain significance |
933941 |
|
9:139994298-139994298 |
9:137099846-137099846 |
34 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His) |
SNV |
Uncertain significance |
129575 |
rs374247020 |
9:140002059-140002059 |
9:137107607-137107607 |
35 |
MAN1B1 |
NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile) |
SNV |
Uncertain significance |
958223 |
|
9:139983423-139983423 |
9:137088971-137088971 |
36 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile) |
SNV |
Uncertain significance |
971969 |
|
9:140001251-140001251 |
9:137106799-137106799 |
37 |
MAN1B1 |
NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser) |
SNV |
Uncertain significance |
589168 |
rs573766677 |
9:139981458-139981458 |
9:137087006-137087006 |
38 |
MAN1B1 |
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) |
SNV |
Uncertain significance |
435802 |
rs149322865 |
9:139982611-139982611 |
9:137088159-137088159 |
39 |
MAN1B1 |
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp) |
SNV |
Uncertain significance |
587867 |
rs777884272 |
9:139994322-139994322 |
9:137099870-137099870 |
40 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) |
SNV |
Uncertain significance |
435810 |
rs377461918 |
9:140002893-140002893 |
9:137108441-137108441 |
41 |
MAN1B1 |
NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr) |
SNV |
Uncertain significance |
588165 |
rs140568381 |
9:139981477-139981477 |
9:137087025-137087025 |
42 |
MAN1B1 |
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=) |
SNV |
Uncertain significance |
912427 |
|
9:139990826-139990826 |
9:137096374-137096374 |
43 |
MAN1B1 |
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=) |
SNV |
Uncertain significance |
912428 |
|
9:139992337-139992337 |
9:137097885-137097885 |
44 |
MAN1B1 |
NM_016219.5(MAN1B1):c.731-8C>T |
SNV |
Uncertain significance |
912429 |
|
9:139994140-139994140 |
9:137099688-137099688 |
45 |
MAN1B1 |
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=) |
SNV |
Uncertain significance |
912459 |
|
9:140001187-140001187 |
9:137106735-137106735 |
46 |
MAN1B1 |
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala) |
SNV |
Uncertain significance |
912491 |
|
9:140003023-140003023 |
9:137108571-137108571 |
47 |
MAN1B1 |
NM_016219.5(MAN1B1):c.*62A>G |
SNV |
Uncertain significance |
912492 |
|
9:140003105-140003105 |
9:137108653-137108653 |
48 |
MAN1B1 |
NM_016219.5(MAN1B1):c.*86C>T |
SNV |
Uncertain significance |
912493 |
|
9:140003129-140003129 |
9:137108677-137108677 |
49 |
MAN1B1 |
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=) |
SNV |
Uncertain significance |
913496 |
|
9:139981610-139981610 |
9:137087158-137087158 |
50 |
MAN1B1 |
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg) |
SNV |
Uncertain significance |
913497 |
|
9:139981614-139981614 |
9:137087162-137087162 |