1 |
IGLL1 |
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter) |
SNV |
Pathogenic
|
14824 |
rs74315491 |
GRCh37: 22:23922314-23922314 GRCh38: 22:23580127-23580127 |
2 |
IGLL1 |
NM_020070.4(IGLL1):c.258del (p.Gln88fs) |
DEL |
Conflicting Interpretations Of Pathogenicity
|
236015 |
rs532338576 |
GRCh37: 22:23917218-23917218 GRCh38: 22:23575031-23575031 |
3 |
IGLL1 |
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
538828 |
rs149986237 |
GRCh37: 22:23915761-23915761 GRCh38: 22:23573574-23573574 |
4 |
IGLL1 |
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
791698 |
rs143780139 |
GRCh37: 22:23915745-23915745 GRCh38: 22:23573558-23573558 |
5 |
IGLL1 |
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
439824 |
rs139491925 |
GRCh37: 22:23915479-23915479 GRCh38: 22:23573292-23573292 |
6 |
IGLL1 |
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
547919 |
rs112775194 |
GRCh37: 22:23915658-23915658 GRCh38: 22:23573471-23573471 |
7 |
IGLL1 |
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) |
SNV |
Uncertain Significance
|
14825 |
rs1064422 |
GRCh37: 22:23915670-23915670 GRCh38: 22:23573483-23573483 |
8 |
IGLL1 |
NM_020070.4(IGLL1):c.335C>A (p.Ala112Asp) |
SNV |
Uncertain Significance
|
1356613 |
|
GRCh37: 22:23915760-23915760 GRCh38: 22:23573573-23573573 |
9 |
IGLL1 |
NM_020070.4(IGLL1):c.14C>G (p.Thr5Arg) |
SNV |
Uncertain Significance
|
1387818 |
|
GRCh37: 22:23922364-23922364 GRCh38: 22:23580177-23580177 |
10 |
IGLL1 |
NM_020070.4(IGLL1):c.134C>T (p.Ser45Leu) |
SNV |
Uncertain Significance
|
1391863 |
|
GRCh37: 22:23922244-23922244 GRCh38: 22:23580057-23580057 |
11 |
IGLL1 |
NM_020070.4(IGLL1):c.477C>T (p.Gly159=) |
SNV |
Uncertain Significance
|
1395050 |
|
GRCh37: 22:23915618-23915618 GRCh38: 22:23573431-23573431 |
12 |
IGLL1 |
NM_020070.4(IGLL1):c.545C>T (p.Thr182Met) |
SNV |
Uncertain Significance
|
1376930 |
|
GRCh37: 22:23915550-23915550 GRCh38: 22:23573363-23573363 |
13 |
IGLL1 |
NM_020070.4(IGLL1):c.241A>G (p.Arg81Gly) |
SNV |
Uncertain Significance
|
1376935 |
|
GRCh37: 22:23917235-23917235 GRCh38: 22:23575048-23575048 |
14 |
IGLL1 |
NM_020070.4(IGLL1):c.590T>G (p.Met197Arg) |
SNV |
Uncertain Significance
|
1363505 |
|
GRCh37: 22:23915505-23915505 GRCh38: 22:23573318-23573318 |
15 |
IGLL1 |
NM_020070.4(IGLL1):c.232A>C (p.Thr78Pro) |
SNV |
Uncertain Significance
|
1397988 |
|
GRCh37: 22:23917244-23917244 GRCh38: 22:23575057-23575057 |
16 |
IGLL1 |
NM_020070.4(IGLL1):c.446G>T (p.Trp149Leu) |
SNV |
Uncertain Significance
|
1414307 |
|
GRCh37: 22:23915649-23915649 GRCh38: 22:23573462-23573462 |
17 |
IGLL1 |
NM_020070.4(IGLL1):c.323G>A (p.Ser108Asn) |
SNV |
Uncertain Significance
|
1426980 |
|
GRCh37: 22:23915772-23915772 GRCh38: 22:23573585-23573585 |
18 |
IGLL1 |
NM_020070.4(IGLL1):c.426G>A (p.Pro142=) |
SNV |
Uncertain Significance
|
1445521 |
|
GRCh37: 22:23915669-23915669 GRCh38: 22:23573482-23573482 |
19 |
IGLL1 |
NM_020070.4(IGLL1):c.367T>C (p.Ser123Pro) |
SNV |
Uncertain Significance
|
1435654 |
|
GRCh37: 22:23915728-23915728 GRCh38: 22:23573541-23573541 |
20 |
IGLL1 |
NM_020070.4(IGLL1):c.605C>G (p.Thr202Ser) |
SNV |
Uncertain Significance
|
1497677 |
|
GRCh37: 22:23915490-23915490 GRCh38: 22:23573303-23573303 |
21 |
IGLL1 |
NM_020070.4(IGLL1):c.585G>T (p.Gln195His) |
SNV |
Uncertain Significance
|
1504082 |
|
GRCh37: 22:23915510-23915510 GRCh38: 22:23573323-23573323 |
22 |
IGLL1 |
NM_020070.4(IGLL1):c.520G>T (p.Ala174Ser) |
SNV |
Uncertain Significance
|
1345788 |
|
GRCh37: 22:23915575-23915575 GRCh38: 22:23573388-23573388 |
23 |
IGLL1 |
NM_020070.4(IGLL1):c.288T>G (p.His96Gln) |
SNV |
Uncertain Significance
|
1348438 |
|
GRCh37: 22:23917188-23917188 GRCh38: 22:23575001-23575001 |
24 |
IGLL1 |
NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu) |
SNV |
Uncertain Significance
|
836258 |
rs569884568 |
GRCh37: 22:23922181-23922181 GRCh38: 22:23579994-23579994 |
25 |
IGLL1 |
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys) |
SNV |
Uncertain Significance
|
840747 |
rs199529532 |
GRCh37: 22:23922260-23922260 GRCh38: 22:23580073-23580073 |
26 |
IGLL1 |
NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly) |
SNV |
Uncertain Significance
|
847416 |
rs146108390 |
GRCh37: 22:23922200-23922200 GRCh38: 22:23580013-23580013 |
27 |
IGLL1 |
NM_020070.4(IGLL1):c.35C>T (p.Ala12Val) |
SNV |
Uncertain Significance
|
939503 |
rs775788164 |
GRCh37: 22:23922343-23922343 GRCh38: 22:23580156-23580156 |
28 |
IGLL1 |
NM_020070.4(IGLL1):c.619G>A (p.Val207Met) |
SNV |
Uncertain Significance
|
947731 |
rs779159751 |
GRCh37: 22:23915476-23915476 GRCh38: 22:23573289-23573289 |
29 |
IGLL1 |
NM_020070.4(IGLL1):c.178C>T (p.Arg60Trp) |
SNV |
Uncertain Significance
|
965383 |
rs146108390 |
GRCh37: 22:23922200-23922200 GRCh38: 22:23580013-23580013 |
30 |
IGLL1 |
NM_020070.4(IGLL1):c.17G>T (p.Gly6Val) |
SNV |
Uncertain Significance
|
965546 |
rs1460659708 |
GRCh37: 22:23922361-23922361 GRCh38: 22:23580174-23580174 |
31 |
IGLL1 |
NM_020070.4(IGLL1):c.163C>T (p.Pro55Ser) |
SNV |
Uncertain Significance
|
1002499 |
rs759845022 |
GRCh37: 22:23922215-23922215 GRCh38: 22:23580028-23580028 |
32 |
IGLL1 |
NM_020070.4(IGLL1):c.53C>T (p.Pro18Leu) |
SNV |
Uncertain Significance
|
1025838 |
rs374187217 |
GRCh37: 22:23922325-23922325 GRCh38: 22:23580138-23580138 |
33 |
IGLL1 |
NM_020070.4(IGLL1):c.606_607del (p.Val203fs) |
DEL |
Uncertain Significance
|
1044631 |
rs765895465 |
GRCh37: 22:23915488-23915489 GRCh38: 22:23573301-23573302 |
34 |
IGLL1 |
NM_020070.4(IGLL1):c.550G>A (p.Glu184Lys) |
SNV |
Uncertain Significance
|
1054982 |
|
GRCh37: 22:23915545-23915545 GRCh38: 22:23573358-23573358 |
35 |
IGLL1 |
NM_020070.4(IGLL1):c.617C>T (p.Thr206Met) |
SNV |
Uncertain Significance
|
1057687 |
|
GRCh37: 22:23915478-23915478 GRCh38: 22:23573291-23573291 |
36 |
IGLL1 |
NM_020070.4(IGLL1):c.338C>A (p.Thr113Asn) |
SNV |
Uncertain Significance
|
1063380 |
|
GRCh37: 22:23915757-23915757 GRCh38: 22:23573570-23573570 |
37 |
IGLL1 |
NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu) |
SNV |
Uncertain Significance
|
569037 |
rs746843426 |
GRCh37: 22:23915733-23915733 GRCh38: 22:23573546-23573546 |
38 |
IGLL1 |
NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro) |
SNV |
Uncertain Significance
|
569973 |
rs142959335 |
GRCh37: 22:23915718-23915718 GRCh38: 22:23573531-23573531 |
39 |
IGLL1 |
NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln) |
SNV |
Uncertain Significance
|
572361 |
rs569884568 |
GRCh37: 22:23922181-23922181 GRCh38: 22:23579994-23579994 |
40 |
IGLL1 |
NM_020070.4(IGLL1):c.458G>T (p.Gly153Val) |
SNV |
Uncertain Significance
|
572836 |
rs138007109 |
GRCh37: 22:23915637-23915637 GRCh38: 22:23573450-23573450 |
41 |
IGLL1 |
NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala) |
INDEL |
Uncertain Significance
|
575852 |
rs1569069031 |
GRCh37: 22:23915486-23915489 GRCh38: 22:23573299-23573302 |
42 |
IGLL1 |
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln) |
SNV |
Uncertain Significance
|
575956 |
rs200178386 |
GRCh37: 22:23917222-23917222 GRCh38: 22:23575035-23575035 |
43 |
IGLL1 |
NM_020070.4(IGLL1):c.21G>C (p.Gln7His) |
SNV |
Uncertain Significance
|
576645 |
rs1044209410 |
GRCh37: 22:23922357-23922357 GRCh38: 22:23580170-23580170 |
44 |
IGLL1 |
NM_020070.4(IGLL1):c.478G>A (p.Val160Met) |
SNV |
Uncertain Significance
|
644111 |
rs138799296 |
GRCh37: 22:23915617-23915617 GRCh38: 22:23573430-23573430 |
45 |
IGLL1 |
NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg) |
SNV |
Uncertain Significance
|
644739 |
rs775909535 |
GRCh37: 22:23917175-23917175 GRCh38: 22:23574988-23574988 |
46 |
IGLL1 |
NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys) |
SNV |
Uncertain Significance
|
661875 |
rs537809626 |
GRCh37: 22:23915727-23915727 GRCh38: 22:23573540-23573540 |
47 |
IGLL1 |
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser) |
SNV |
Uncertain Significance
|
664104 |
rs1602287119 |
GRCh37: 22:23915635-23915635 GRCh38: 22:23573448-23573448 |
48 |
IGLL1 |
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn) |
SNV |
Uncertain Significance
|
664919 |
rs765426613 |
GRCh37: 22:23915568-23915568 GRCh38: 22:23573381-23573381 |
49 |
IGLL1 |
NM_020070.4(IGLL1):c.607G>A (p.Val203Met) |
SNV |
Uncertain Significance
|
538827 |
rs771552908 |
GRCh37: 22:23915488-23915488 GRCh38: 22:23573301-23573301 |
50 |
IGLL1 |
NC_000022.10:g.(?_23917134)_(23922397_?)dup |
DUP |
Uncertain Significance
|
583726 |
|
GRCh37: 22:23917134-23922397 GRCh38: 22:23574947-23580210 |