1 |
GLE1 |
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His) |
SNV |
Pathogenic
|
6463 |
rs121434407 |
GRCh37: 9:131298693-131298693 GRCh38: 9:128536414-128536414 |
2 |
GLE1 |
NM_001003722.2(GLE1):c.433-10A>G |
SNV |
Pathogenic
|
6462 |
rs386833693 |
GRCh37: 9:131284937-131284937 GRCh38: 9:128522658-128522658 |
3 |
ERBB3 |
NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del) |
MICROSAT |
Uncertain Significance
|
522965 |
rs780883720 |
GRCh37: 12:56495375-56495377 GRCh38: 12:56101591-56101593 |
4 |
GLE1 |
NM_001003722.2(GLE1):c.1243-5G>A |
SNV |
Uncertain Significance
|
706479 |
rs372835667 |
GRCh37: 9:131289730-131289730 GRCh38: 9:128527451-128527451 |
5 |
GLE1 |
NM_001003722.2(GLE1):c.643-4A>G |
SNV |
Uncertain Significance
|
706615 |
rs369804957 |
GRCh37: 9:131285867-131285867 GRCh38: 9:128523588-128523588 |
6 |
GLE1 |
NM_001003722.2(GLE1):c.1882-8C>G |
SNV |
Uncertain Significance
|
915237 |
rs757998854 |
GRCh37: 9:131301887-131301887 GRCh38: 9:128539608-128539608 |
7 |
GLE1 |
NM_001003722.2(GLE1):c.1964+8G>T |
SNV |
Uncertain Significance
|
915238 |
rs1847831145 |
GRCh37: 9:131301985-131301985 GRCh38: 9:128539706-128539706 |
8 |
GLE1 |
NM_001499.2(GLE1):c.-108C>A |
SNV |
Uncertain Significance
|
365126 |
rs545478697 |
GRCh37: 9:131266977-131266977 GRCh38: 9:128504698-128504698 |
9 |
GLE1 |
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn) |
SNV |
Uncertain Significance
|
256860 |
rs146800850 |
GRCh37: 9:131286051-131286051 GRCh38: 9:128523772-128523772 |
10 |
GLE1 |
NM_001003722.2(GLE1):c.*782C>G |
SNV |
Uncertain Significance
|
365144 |
rs886063494 |
GRCh37: 9:131304231-131304231 GRCh38: 9:128541952-128541952 |
11 |
GLE1 |
NM_001003722.2(GLE1):c.-81C>T |
SNV |
Uncertain Significance
|
365128 |
rs56214514 |
GRCh37: 9:131267004-131267004 GRCh38: 9:128504725-128504725 |
12 |
GLE1 |
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg) |
SNV |
Uncertain Significance
Uncertain Significance
|
285426 |
rs150246404 |
GRCh37: 9:131267089-131267089 GRCh38: 9:128504810-128504810 |
13 |
GLE1 |
NM_001003722.2(GLE1):c.*111T>C |
SNV |
Uncertain Significance
|
365137 |
rs567740764 |
GRCh37: 9:131303560-131303560 GRCh38: 9:128541281-128541281 |
14 |
GLE1 |
NM_001003722.2(GLE1):c.2028+15G>A |
SNV |
Uncertain Significance
|
365135 |
rs886063490 |
GRCh37: 9:131302632-131302632 GRCh38: 9:128540353-128540353 |
15 |
GLE1 |
NM_001003722.2(GLE1):c.749C>T (p.Ala250Val) |
SNV |
Uncertain Significance
|
365134 |
rs886063489 |
GRCh37: 9:131285977-131285977 GRCh38: 9:128523698-128523698 |
16 |
GLE1 |
NM_001003722.2(GLE1):c.*390C>T |
SNV |
Uncertain Significance
|
365140 |
rs886063491 |
GRCh37: 9:131303839-131303839 GRCh38: 9:128541560-128541560 |
17 |
GLE1 |
NM_001003722.2(GLE1):c.321+13T>G |
SNV |
Uncertain Significance
|
365132 |
rs752458769 |
GRCh37: 9:131271389-131271389 GRCh38: 9:128509110-128509110 |
18 |
GLE1 |
NM_001003722.2(GLE1):c.*933A>C |
SNV |
Uncertain Significance
|
365146 |
rs537244282 |
GRCh37: 9:131304382-131304382 GRCh38: 9:128542103-128542103 |
19 |
GLE1 |
NM_001003722.2(GLE1):c.-51G>A |
SNV |
Uncertain Significance
|
365129 |
rs527886091 |
GRCh37: 9:131267034-131267034 GRCh38: 9:128504755-128504755 |
20 |
GLE1 |
NM_001003722.2(GLE1):c.*640C>T |
SNV |
Uncertain Significance
|
365142 |
rs575049150 |
GRCh37: 9:131304089-131304089 GRCh38: 9:128541810-128541810 |
21 |
GLE1 |
NM_001003722.2(GLE1):c.-84A>C |
SNV |
Uncertain Significance
|
365127 |
rs886063488 |
GRCh37: 9:131267001-131267001 GRCh38: 9:128504722-128504722 |
22 |
GLE1 |
NM_001003722.2(GLE1):c.*708T>C |
SNV |
Uncertain Significance
|
365143 |
rs886063493 |
GRCh37: 9:131304157-131304157 GRCh38: 9:128541878-128541878 |
23 |
GLE1 |
NM_001003722.2(GLE1):c.-45T>C |
SNV |
Uncertain Significance
|
365130 |
rs372008961 |
GRCh37: 9:131267040-131267040 GRCh38: 9:128504761-128504761 |
24 |
GLE1 |
NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu) |
SNV |
Uncertain Significance
|
365131 |
rs549769200 |
GRCh37: 9:131267138-131267138 GRCh38: 9:128504859-128504859 |
25 |
GLE1 |
NM_001003722.2(GLE1):c.679C>T (p.Arg227Cys) |
SNV |
Uncertain Significance
|
284416 |
rs146025848 |
GRCh37: 9:131285907-131285907 GRCh38: 9:128523628-128523628 |
26 |
GLE1 |
NM_001003722.2(GLE1):c.-34G>A |
SNV |
Uncertain Significance
|
912454 |
rs746646699 |
GRCh37: 9:131267051-131267051 GRCh38: 9:128504772-128504772 |
27 |
GLE1 |
NM_001003722.2(GLE1):c.928G>A (p.Glu310Lys) |
SNV |
Uncertain Significance
|
912487 |
rs1399822902 |
GRCh37: 9:131287501-131287501 GRCh38: 9:128525222-128525222 |
28 |
GLE1 |
NM_001003722.2(GLE1):c.947G>A (p.Arg316Gln) |
SNV |
Uncertain Significance
|
912488 |
rs147943229 |
GRCh37: 9:131287520-131287520 GRCh38: 9:128525241-128525241 |
29 |
GLE1 |
NM_001003722.2(GLE1):c.*381C>T |
SNV |
Uncertain Significance
|
912543 |
rs1406484784 |
GRCh37: 9:131303830-131303830 GRCh38: 9:128541551-128541551 |
30 |
GLE1 |
NM_001003722.2(GLE1):c.*962C>T |
SNV |
Uncertain Significance
|
912589 |
rs1429188870 |
GRCh37: 9:131304411-131304411 GRCh38: 9:128542132-128542132 |
31 |
GLE1 |
NM_001003722.2(GLE1):c.*1002G>C |
SNV |
Uncertain Significance
|
912590 |
rs1019748251 |
GRCh37: 9:131304451-131304451 GRCh38: 9:128542172-128542172 |
32 |
GLE1 |
NM_001003722.2(GLE1):c.76C>G (p.Arg26Gly) |
SNV |
Uncertain Significance
|
913573 |
rs998518976 |
GRCh37: 9:131267160-131267160 GRCh38: 9:128504881-128504881 |
33 |
GLE1 |
NM_001003722.2(GLE1):c.1109C>T (p.Pro370Leu) |
SNV |
Uncertain Significance
|
913605 |
rs147123899 |
GRCh37: 9:131287682-131287682 GRCh38: 9:128525403-128525403 |
34 |
GLE1 |
NM_001003722.2(GLE1):c.1130-15T>C |
SNV |
Uncertain Significance
|
913606 |
rs758765842 |
GRCh37: 9:131289443-131289443 GRCh38: 9:128527164-128527164 |
35 |
GLE1 |
NM_001003722.2(GLE1):c.*425A>G |
SNV |
Uncertain Significance
|
913645 |
rs577169921 |
GRCh37: 9:131303874-131303874 GRCh38: 9:128541595-128541595 |
36 |
GLE1 |
NM_001003722.2(GLE1):c.*525C>T |
SNV |
Uncertain Significance
|
913646 |
rs565110597 |
GRCh37: 9:131303974-131303974 GRCh38: 9:128541695-128541695 |
37 |
GLE1 |
NM_001003722.2(GLE1):c.485C>T (p.Ser162Leu) |
SNV |
Uncertain Significance
|
913956 |
rs150781935 |
GRCh37: 9:131284999-131284999 GRCh38: 9:128522720-128522720 |
38 |
GLE1 |
NM_001003722.2(GLE1):c.573G>C (p.Met191Ile) |
SNV |
Uncertain Significance
|
913957 |
rs201267934 |
GRCh37: 9:131285087-131285087 GRCh38: 9:128522808-128522808 |
39 |
GLE1 |
NM_001003722.2(GLE1):c.1396G>A (p.Val466Ile) |
SNV |
Uncertain Significance
|
914004 |
rs72756895 |
GRCh37: 9:131295875-131295875 GRCh38: 9:128533596-128533596 |
40 |
GLE1 |
NM_001003722.2(GLE1):c.1431A>G (p.Gln477=) |
SNV |
Uncertain Significance
|
914005 |
rs149283351 |
GRCh37: 9:131295910-131295910 GRCh38: 9:128533631-128533631 |
41 |
GLE1 |
NM_001003722.2(GLE1):c.1493C>G (p.Ala498Gly) |
SNV |
Uncertain Significance
|
914006 |
rs1847604014 |
GRCh37: 9:131296077-131296077 GRCh38: 9:128533798-128533798 |
42 |
GLE1 |
NM_001003722.2(GLE1):c.*536G>A |
SNV |
Uncertain Significance
|
914048 |
rs371069460 |
GRCh37: 9:131303985-131303985 GRCh38: 9:128541706-128541706 |
43 |
GLE1 |
NM_001003722.2(GLE1):c.*599G>A |
SNV |
Uncertain Significance
|
914049 |
rs1847888254 |
GRCh37: 9:131304048-131304048 GRCh38: 9:128541769-128541769 |
44 |
GLE1 |
NM_001003722.2(GLE1):c.*618T>C |
SNV |
Uncertain Significance
|
914050 |
rs973004617 |
GRCh37: 9:131304067-131304067 GRCh38: 9:128541788-128541788 |
45 |
GLE1 |
NM_001003722.2(GLE1):c.*907G>A |
SNV |
Uncertain Significance
|
914557 |
rs55823126 |
GRCh37: 9:131304356-131304356 GRCh38: 9:128542077-128542077 |
46 |
GLE1 |
NM_001003722.2(GLE1):c.719A>G (p.Glu240Gly) |
SNV |
Uncertain Significance
|
915198 |
rs751057699 |
GRCh37: 9:131285947-131285947 GRCh38: 9:128523668-128523668 |
47 |
GLE1 |
NM_001003722.2(GLE1):c.737G>A (p.Arg246Gln) |
SNV |
Uncertain Significance
|
915199 |
rs778870141 |
GRCh37: 9:131285965-131285965 GRCh38: 9:128523686-128523686 |
48 |
GLE1 |
NM_001003722.2(GLE1):c.1554C>A (p.Asp518Glu) |
SNV |
Uncertain Significance
|
914007 |
rs1345583590 |
GRCh37: 9:131296138-131296138 GRCh38: 9:128533859-128533859 |
49 |
GLE1 |
NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr) |
SNV |
Likely Benign
|
702330 |
rs138871311 |
GRCh37: 9:131271171-131271171 GRCh38: 9:128508892-128508892 |
50 |
GLE1 |
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr) |
SNV |
Likely Benign
|
289027 |
rs141709685 |
GRCh37: 9:131295872-131295872 GRCh38: 9:128533593-128533593 |