1 |
NDE1 |
NM_017668.3(NDE1):c.733dup (p.Leu245fs) |
DUP |
Pathogenic
|
30789 |
rs749768828 |
GRCh37: 16:15788045-15788046 GRCh38: 16:15694188-15694189 |
2 |
NDE1 |
GRCh37/hg19 16p13.11(chr16:15758011-15761384) |
CN LOSS |
Pathogenic
|
625823 |
|
GRCh37: 16:15758011-15761384 GRCh38: |
3 |
NDE1 |
NM_017668.3(NDE1):c.109C>T (p.Arg37Ter) |
SNV |
Pathogenic
|
620567 |
rs757604577 |
GRCh37: 16:15761168-15761168 GRCh38: 16:15667311-15667311 |
4 |
NDE1 |
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter) |
SNV |
Pathogenic
|
159015 |
rs576928842 |
GRCh37: 16:15785135-15785135 GRCh38: 16:15691278-15691278 |
5 |
NDE1 |
NM_017668.3(NDE1):c.54G>A (p.Trp18Ter) |
SNV |
Pathogenic
|
1696425 |
|
GRCh37: 16:15758689-15758689 GRCh38: 16:15664832-15664832 |
6 |
NDE1 |
NM_017668.3(NDE1):c.684_685del (p.Pro229fs) |
MICROSAT |
Pathogenic
|
30787 |
rs756206942 |
GRCh37: 16:15785157-15785158 GRCh38: 16:15691300-15691301 |
7 |
NDE1 |
NM_017668.3(NDE1):c.83+1G>T |
SNV |
Pathogenic
|
435939 |
rs1456594953 |
GRCh37: 16:15758719-15758719 GRCh38: 16:15664862-15664862 |
8 |
NDE1 |
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) |
SNV |
Conflicting Interpretations Of Pathogenicity
Uncertain Significance
|
159020 |
rs146284370 |
GRCh37: 16:15790642-15790642 GRCh38: 16:15696785-15696785 |
9 |
MYH11, NDE1 |
NM_017668.3(NDE1):c.956C>T (p.Thr319Met) |
SNV |
Uncertain Significance
|
159022 |
rs141262029 |
GRCh37: 16:15818056-15818056 GRCh38: 16:15724199-15724199 |
10 |
NDE1 |
NM_001143979.2(NDE1):c.-398A>C |
SNV |
Uncertain Significance
|
318028 |
rs886051716 |
GRCh37: 16:15737552-15737552 GRCh38: 16:15643695-15643695 |
11 |
MYH11, NDE1 |
NM_017668.3(NDE1):c.*901C>A |
SNV |
Uncertain Significance
|
885962 |
rs1487148358 |
GRCh37: 16:15819009-15819009 GRCh38: 16:15725152-15725152 |
12 |
MYH11, NDE1 |
NM_017668.3(NDE1):c.*593A>G |
SNV |
Uncertain Significance
|
318126 |
rs770305005 |
GRCh37: 16:15818701-15818701 GRCh38: 16:15724844-15724844 |
13 |
MYH11, NDE1 |
NM_017668.3(NDE1):c.*1305C>A |
SNV |
Uncertain Significance
|
888227 |
rs201510034 |
GRCh37: 16:15819413-15819413 GRCh38: 16:15725556-15725556 |
14 |
MYH11, NDE1 |
NM_017668.3(NDE1):c.*1366C>T |
SNV |
Uncertain Significance
|
888228 |
rs2040715879 |
GRCh37: 16:15819474-15819474 GRCh38: 16:15725617-15725617 |
15 |
MYH11, NDE1 |
NM_017668.3(NDE1):c.*1383G>A |
SNV |
Uncertain Significance
|
888229 |
rs1265003834 |
GRCh37: 16:15819491-15819491 GRCh38: 16:15725634-15725634 |
16 |
NDE1 |
NM_017668.3(NDE1):c.744G>A (p.Ala248=) |
SNV |
Uncertain Significance
|
159018 |
rs1123418 |
GRCh37: 16:15788062-15788062 GRCh38: 16:15694205-15694205 |
17 |
NDE1 |
NM_001143979.2(NDE1):c.-512T>G |
SNV |
Uncertain Significance
|
318026 |
rs886051714 |
GRCh37: 16:15737438-15737438 GRCh38: 16:15643581-15643581 |
18 |
NDE1 |
NM_001143979.1(NDE1):c.-812C>T |
SNV |
Uncertain Significance
|
318015 |
rs886051710 |
GRCh37: 16:15737138-15737138 GRCh38: 16:15643281-15643281 |
19 |
NDE1 |
NM_001143979.2(NDE1):c.-695C>T |
SNV |
Uncertain Significance
|
318018 |
rs551758626 |
GRCh37: 16:15737255-15737255 GRCh38: 16:15643398-15643398 |
20 |
NDE1 |
NM_001143979.2(NDE1):c.-479C>T |
SNV |
Uncertain Significance
|
318027 |
rs886051715 |
GRCh37: 16:15737471-15737471 GRCh38: 16:15643614-15643614 |
21 |
NDE1 |
NM_001143979.2(NDE1):c.-340T>A |
SNV |
Uncertain Significance
|
318030 |
rs752993685 |
GRCh37: 16:15737610-15737610 GRCh38: 16:15643753-15643753 |
22 |
NDE1 |
NM_001143979.2(NDE1):c.-186G>T |
SNV |
Uncertain Significance
|
318033 |
rs886051718 |
GRCh37: 16:15737764-15737764 GRCh38: 16:15643907-15643907 |
23 |
NDE1, MIR484 |
NM_001143979.1(NDE1):c.-794C>T |
SNV |
Uncertain Significance
|
884574 |
rs867184365 |
GRCh37: 16:15737156-15737156 GRCh38: 16:15643299-15643299 |
24 |
NDE1, MIR484 |
NM_001143979.1(NDE1):c.-765C>T |
SNV |
Uncertain Significance
|
884575 |
rs374184031 |
GRCh37: 16:15737185-15737185 GRCh38: 16:15643328-15643328 |
25 |
MYH11, NDE1 |
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) |
SNV |
Uncertain Significance
|
201039 |
rs148621523 |
GRCh37: 16:15809106-15809106 GRCh38: 16:15715249-15715249 |
26 |
NDE1 |
NM_001143979.2(NDE1):c.-132C>T |
SNV |
Uncertain Significance
|
318038 |
rs886051720 |
GRCh37: 16:15743238-15743238 GRCh38: 16:15649381-15649381 |
27 |
MYH11, NDE1 |
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) |
SNV |
Uncertain Significance
|
201073 |
rs112467954 |
GRCh37: 16:15818143-15818143 GRCh38: 16:15724286-15724286 |
28 |
MYH11, NDE1 |
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) |
SNV |
Uncertain Significance
|
257258 |
rs190546350 |
GRCh37: 16:15818811-15818811 GRCh38: 16:15724954-15724954 |
29 |
NDE1 |
NM_017668.3(NDE1):c.624C>T (p.Ala208=) |
SNV |
Uncertain Significance
|
386002 |
rs149046258 |
GRCh37: 16:15785101-15785101 GRCh38: 16:15691244-15691244 |
30 |
NDE1 |
NM_001143979.2(NDE1):c.-246A>C |
SNV |
Uncertain Significance
|
886533 |
rs2036218596 |
GRCh37: 16:15737704-15737704 GRCh38: 16:15643847-15643847 |
31 |
NDE1 |
NM_001143979.1(NDE1):c.-825G>A |
SNV |
Uncertain Significance
|
887717 |
rs1340834896 |
GRCh37: 16:15737125-15737125 GRCh38: 16:15643268-15643268 |
32 |
MYH11, NDE1 |
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) |
SNV |
Uncertain Significance
|
201071 |
rs374271463 |
GRCh37: 16:15818604-15818604 GRCh38: 16:15724747-15724747 |
33 |
MYH11, NDE1 |
NM_017668.3(NDE1):c.*388del |
DEL |
Uncertain Significance
|
201034 |
rs543763112 |
GRCh37: 16:15818493-15818493 GRCh38: 16:15724636-15724636 |
34 |
NDE1 |
NM_017668.3(NDE1):c.155C>T (p.Thr52Met) |
SNV |
Uncertain Significance
Uncertain Significance
|
211577 |
rs148118152 |
GRCh37: 16:15761214-15761214 GRCh38: 16:15667357-15667357 |
35 |
NDE1 |
NM_017668.3(NDE1):c.302C>T (p.Ala101Val) |
SNV |
Uncertain Significance
Uncertain Significance
|
287331 |
rs201587506 |
GRCh37: 16:15771722-15771722 GRCh38: 16:15677865-15677865 |
36 |
NDE1 |
NM_017668.3(NDE1):c.701G>A (p.Arg234His) |
SNV |
Uncertain Significance
Uncertain Significance
|
435935 |
rs138255766 |
GRCh37: 16:15785178-15785178 GRCh38: 16:15691321-15691321 |
37 |
NDE1 |
NM_017668.3(NDE1):c.291G>A (p.Glu97=) |
SNV |
Uncertain Significance
|
884703 |
rs760012847 |
GRCh37: 16:15771711-15771711 GRCh38: 16:15677854-15677854 |
38 |
NDE1 |
NM_017668.3(NDE1):c.12C>T (p.Ser4=) |
SNV |
Uncertain Significance
|
318045 |
rs572790932 |
GRCh37: 16:15758647-15758647 GRCh38: 16:15664790-15664790 |
39 |
NDE1 |
NM_017668.3(NDE1):c.921C>A (p.Ser307Arg) |
SNV |
Uncertain Significance
|
318068 |
rs368310178 |
GRCh37: 16:15790691-15790691 GRCh38: 16:15696834-15696834 |
40 |
NDE1 |
NM_017668.3(NDE1):c.720C>T (p.Thr240=) |
SNV |
Uncertain Significance
|
318064 |
rs150492774 |
GRCh37: 16:15788038-15788038 GRCh38: 16:15694181-15694181 |
41 |
NDE1 |
NM_017668.3(NDE1):c.309C>G (p.Thr103=) |
SNV |
Uncertain Significance
|
318059 |
rs376548563 |
GRCh37: 16:15771729-15771729 GRCh38: 16:15677872-15677872 |
42 |
NDE1 |
NM_017668.3(NDE1):c.386+9G>A |
SNV |
Uncertain Significance
|
288031 |
rs147174812 |
GRCh37: 16:15771815-15771815 GRCh38: 16:15677958-15677958 |
43 |
NDE1 |
NM_017668.3(NDE1):c.84-5T>C |
SNV |
Uncertain Significance
|
159019 |
rs587783872 |
GRCh37: 16:15761138-15761138 GRCh38: 16:15667281-15667281 |
44 |
NDE1 |
NM_017668.3(NDE1):c.623C>T (p.Ala208Val) |
SNV |
Uncertain Significance
|
159014 |
rs587783867 |
GRCh37: 16:15785100-15785100 GRCh38: 16:15691243-15691243 |
45 |
NDE1 |
NM_017668.3(NDE1):c.145G>T (p.Glu49Ter) |
SNV |
Uncertain Significance
|
631746 |
rs1567627484 |
GRCh37: 16:15761204-15761204 GRCh38: 16:15667347-15667347 |
46 |
NDE1 |
NM_017668.3(NDE1):c.214C>T (p.Arg72Cys) |
SNV |
Uncertain Significance
|
800855 |
rs777008106 |
GRCh37: 16:15761273-15761273 GRCh38: 16:15667416-15667416 |
47 |
NDE1 |
NM_017668.3(NDE1):c.524-6G>A |
SNV |
Uncertain Significance
|
884704 |
rs770035211 |
GRCh37: 16:15784995-15784995 GRCh38: 16:15691138-15691138 |
48 |
NDE1 |
NM_017668.3(NDE1):c.712G>A (p.Asp238Asn) |
SNV |
Uncertain Significance
|
885644 |
rs369224665 |
GRCh37: 16:15788030-15788030 GRCh38: 16:15694173-15694173 |
49 |
NDE1 |
NM_017668.3(NDE1):c.184A>G (p.Arg62Gly) |
SNV |
Uncertain Significance
|
886605 |
rs1000629971 |
GRCh37: 16:15761243-15761243 GRCh38: 16:15667386-15667386 |
50 |
NDE1 |
NM_017668.3(NDE1):c.814G>A (p.Ala272Thr) |
SNV |
Uncertain Significance
|
886655 |
rs1360459460 |
GRCh37: 16:15790584-15790584 GRCh38: 16:15696727-15696727 |