1 |
IGLL1 |
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter) |
SNV |
Pathogenic |
14824 |
rs74315491 |
22:23922314-23922314 |
22:23580127-23580127 |
2 |
IGLL1 |
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) |
SNV |
Conflicting interpretations of pathogenicity |
439824 |
rs139491925 |
22:23915479-23915479 |
22:23573292-23573292 |
3 |
IGLL1 |
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) |
SNV |
Conflicting interpretations of pathogenicity |
547919 |
rs112775194 |
22:23915658-23915658 |
22:23573471-23573471 |
4 |
IGLL1 |
NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu) |
SNV |
Uncertain significance |
836258 |
|
22:23922181-23922181 |
22:23579994-23579994 |
5 |
IGLL1 |
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys) |
SNV |
Uncertain significance |
840747 |
|
22:23922260-23922260 |
22:23580073-23580073 |
6 |
IGLL1 |
NM_020070.4(IGLL1):c.221G>A (p.Arg74His) |
SNV |
Uncertain significance |
844864 |
|
22:23917255-23917255 |
22:23575068-23575068 |
7 |
IGLL1 |
NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly) |
SNV |
Uncertain significance |
847416 |
|
22:23922200-23922200 |
22:23580013-23580013 |
8 |
IGLL1 |
NM_020070.4(IGLL1):c.341C>T (p.Pro114Leu) |
SNV |
Uncertain significance |
849960 |
|
22:23915754-23915754 |
22:23573567-23573567 |
9 |
IGLL1 |
NM_020070.4(IGLL1):c.590T>C (p.Met197Thr) |
SNV |
Uncertain significance |
861363 |
|
22:23915505-23915505 |
22:23573318-23573318 |
10 |
IGLL1 |
NM_020070.4(IGLL1):c.35C>T (p.Ala12Val) |
SNV |
Uncertain significance |
939503 |
|
22:23922343-23922343 |
22:23580156-23580156 |
11 |
IGLL1 |
NM_020070.4(IGLL1):c.619G>A (p.Val207Met) |
SNV |
Uncertain significance |
947731 |
|
22:23915476-23915476 |
22:23573289-23573289 |
12 |
IGLL1 |
NM_020070.4(IGLL1):c.415G>A (p.Asp139Asn) |
SNV |
Uncertain significance |
950995 |
|
22:23915680-23915680 |
22:23573493-23573493 |
13 |
IGLL1 |
NM_020070.4(IGLL1):c.421del (p.Tyr141fs) |
Deletion |
Uncertain significance |
962416 |
|
22:23915674-23915674 |
22:23573487-23573487 |
14 |
IGLL1 |
NM_020070.4(IGLL1):c.178C>T (p.Arg60Trp) |
SNV |
Uncertain significance |
965383 |
|
22:23922200-23922200 |
22:23580013-23580013 |
15 |
IGLL1 |
NM_020070.4(IGLL1):c.17G>T (p.Gly6Val) |
SNV |
Uncertain significance |
965546 |
|
22:23922361-23922361 |
22:23580174-23580174 |
16 |
IGLL1 |
NM_020070.4(IGLL1):c.142A>G (p.Arg48Gly) |
SNV |
Uncertain significance |
966548 |
|
22:23922236-23922236 |
22:23580049-23580049 |
17 |
IGLL1 |
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) |
Indel |
Uncertain significance |
538826 |
rs1555903974 |
22:23915574-23915575 |
22:23573387-23573388 |
18 |
IGLL1 |
NM_020070.4(IGLL1):c.607G>A (p.Val203Met) |
SNV |
Uncertain significance |
538827 |
rs771552908 |
22:23915488-23915488 |
22:23573301-23573301 |
19 |
IGLL1 |
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) |
SNV |
Uncertain significance |
14825 |
rs1064422 |
22:23915670-23915670 |
22:23573483-23573483 |
20 |
IGLL1 |
NM_020070.4(IGLL1):c.258del (p.Gln88fs) |
Deletion |
Uncertain significance |
236015 |
rs532338576 |
22:23917218-23917218 |
22:23575031-23575031 |
21 |
IGLL1 |
NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu) |
SNV |
Uncertain significance |
569037 |
rs746843426 |
22:23915733-23915733 |
22:23573546-23573546 |
22 |
IGLL1 |
NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro) |
SNV |
Uncertain significance |
569973 |
rs142959335 |
22:23915718-23915718 |
22:23573531-23573531 |
23 |
IGLL1 |
NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln) |
SNV |
Uncertain significance |
572361 |
rs569884568 |
22:23922181-23922181 |
22:23579994-23579994 |
24 |
IGLL1 |
NM_020070.4(IGLL1):c.458G>T (p.Gly153Val) |
SNV |
Uncertain significance |
572836 |
rs138007109 |
22:23915637-23915637 |
22:23573450-23573450 |
25 |
IGLL1 |
NM_020070.4(IGLL1):c.322+3_322+6del |
Microsatellite |
Uncertain significance |
574475 |
rs1184765604 |
22:23917148-23917151 |
22:23574961-23574964 |
26 |
IGLL1 |
NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala) |
Indel |
Uncertain significance |
575852 |
rs1569069031 |
22:23915486-23915489 |
22:23573299-23573302 |
27 |
IGLL1 |
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln) |
SNV |
Uncertain significance |
575956 |
rs200178386 |
22:23917222-23917222 |
22:23575035-23575035 |
28 |
IGLL1 |
NM_020070.4(IGLL1):c.21G>C (p.Gln7His) |
SNV |
Uncertain significance |
576645 |
rs1044209410 |
22:23922357-23922357 |
22:23580170-23580170 |
29 |
IGLL1 |
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter) |
SNV |
Uncertain significance |
580757 |
rs1569069105 |
22:23915542-23915542 |
22:23573355-23573355 |
30 |
IGLL1 |
NC_000022.10:g.(?_23917134)_(23922397_?)dup |
Duplication |
Uncertain significance |
583726 |
|
22:23917134-23922397 |
22:23574947-23580210 |
31 |
IGLL1 |
NC_000022.11:g.(?_23574947)_(23580210_?)del |
Deletion |
Uncertain significance |
583765 |
|
22:23917134-23922397 |
22:23574947-23580210 |
32 |
IGLL1 |
NM_020070.4(IGLL1):c.385A>C (p.Asn129His) |
SNV |
Uncertain significance |
644108 |
rs1304505064 |
22:23915710-23915710 |
22:23573523-23573523 |
33 |
IGLL1 |
NM_020070.4(IGLL1):c.478G>A (p.Val160Met) |
SNV |
Uncertain significance |
644111 |
rs138799296 |
22:23915617-23915617 |
22:23573430-23573430 |
34 |
IGLL1 |
NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg) |
SNV |
Uncertain significance |
644739 |
rs775909535 |
22:23917175-23917175 |
22:23574988-23574988 |
35 |
IGLL1 |
NM_020070.4(IGLL1):c.316G>A (p.Val106Ile) |
SNV |
Uncertain significance |
651440 |
rs747083240 |
22:23917160-23917160 |
22:23574973-23574973 |
36 |
IGLL1 |
NC_000022.10:g.(?_23915433)_(23922397_?)dup |
Duplication |
Uncertain significance |
661192 |
|
22:23915433-23922397 |
22:23573246-23580210 |
37 |
IGLL1 |
NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys) |
SNV |
Uncertain significance |
661875 |
rs537809626 |
22:23915727-23915727 |
22:23573540-23573540 |
38 |
IGLL1 |
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser) |
SNV |
Uncertain significance |
664104 |
rs1602287119 |
22:23915635-23915635 |
22:23573448-23573448 |
39 |
IGLL1 |
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn) |
SNV |
Uncertain significance |
664919 |
rs765426613 |
22:23915568-23915568 |
22:23573381-23573381 |
40 |
IGLL1 |
NM_020070.4(IGLL1):c.438G>A (p.Thr146=) |
SNV |
Likely benign |
712388 |
rs377678203 |
22:23915657-23915657 |
22:23573470-23573470 |
41 |
IGLL1 |
NM_020070.4(IGLL1):c.594C>T (p.His198=) |
SNV |
Likely benign |
712794 |
rs1064418 |
22:23915501-23915501 |
22:23573314-23573314 |
42 |
IGLL1 |
NM_020070.4(IGLL1):c.253C>T (p.Arg85Trp) |
SNV |
Likely benign |
717970 |
rs369768094 |
22:23917223-23917223 |
22:23575036-23575036 |
43 |
IGLL1 |
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) |
SNV |
Likely benign |
538828 |
rs149986237 |
22:23915761-23915761 |
22:23573574-23573574 |
44 |
IGLL1 |
NM_020070.4(IGLL1):c.618G>A (p.Thr206=) |
SNV |
Likely benign |
538832 |
rs147356355 |
22:23915477-23915477 |
22:23573290-23573290 |
45 |
IGLL1 |
NM_020070.4(IGLL1):c.336C>T (p.Ala112=) |
SNV |
Likely benign |
538833 |
rs140494226 |
22:23915759-23915759 |
22:23573572-23573572 |
46 |
IGLL1 |
NM_020070.4(IGLL1):c.345G>A (p.Ser115=) |
SNV |
Likely benign |
720207 |
rs373712072 |
22:23915750-23915750 |
22:23573563-23573563 |
47 |
IGLL1 |
NM_020070.4(IGLL1):c.67C>T (p.Arg23Cys) |
SNV |
Likely benign |
721827 |
rs114766892 |
22:23922311-23922311 |
22:23580124-23580124 |
48 |
IGLL1 |
NM_020070.4(IGLL1):c.420T>C (p.Phe140=) |
SNV |
Likely benign |
618690 |
rs1064423 |
22:23915675-23915675 |
22:23573488-23573488 |
49 |
IGLL1 |
NM_020070.4(IGLL1):c.360G>A (p.Pro120=) |
SNV |
Likely benign |
747278 |
rs184173813 |
22:23915735-23915735 |
22:23573548-23573548 |
50 |
IGLL1 |
NM_020070.4(IGLL1):c.468C>A (p.Ile156=) |
SNV |
Likely benign |
753746 |
rs536839343 |
22:23915627-23915627 |
22:23573440-23573440 |