1 |
ASPM |
NM_018136.5(ASPM):c.5863dup (p.Gln1955fs) |
DUP |
Pathogenic
|
694714 |
rs1571600860 |
GRCh37: 1:197072517-197072518 GRCh38: 1:197103387-197103388 |
2 |
ASPM |
NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs) |
DEL |
Pathogenic
|
694722 |
rs1558328287 |
GRCh37: 1:197070180-197070181 GRCh38: 1:197101050-197101051 |
3 |
overlap with 2 genes |
NC_000008.10:g.(?_6264113)_(6296618_6299587)del |
DEL |
Pathogenic
|
3456 |
|
GRCh37: 8:6264113-6299587 GRCh38: 8:6406592-6442066 |
4 |
MCPH1 |
NM_024596.5(MCPH1):c.147C>G (p.His49Gln) |
SNV |
Pathogenic
|
30640 |
rs1488084787 |
GRCh37: 8:6272318-6272318 GRCh38: 8:6414797-6414797 |
5 |
MCPH1 |
NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter) |
SNV |
Pathogenic
|
30642 |
rs755862917 |
GRCh37: 8:6289088-6289088 GRCh38: 8:6431567-6431567 |
6 |
overlap with 3 genes |
NC_000008.10:g.(6060654_6061169)_(6310738_6317266)del |
DEL |
Pathogenic
|
208150 |
|
GRCh37: 8:6060654-6317266 GRCh38: 8:6203133-6459745 |
7 |
MCPH1 |
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) |
SNV |
Pathogenic
|
586140 |
rs748011724 |
GRCh37: 8:6302868-6302868 GRCh38: 8:6445347-6445347 |
8 |
overlap with 2 genes |
GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521) |
CN LOSS |
Pathogenic
|
916000 |
|
GRCh37: 8:6160874-6500521 GRCh38: |
9 |
MCPH1 |
GRCh37/hg19 8p23.1(chr8:6261036-6312712) |
CN LOSS |
Pathogenic
|
916001 |
|
GRCh37: 8:6261036-6312712 GRCh38: |
10 |
MCPH1 |
NM_024596.5(MCPH1):c.586del (p.Gln196fs) |
DEL |
Pathogenic
|
987894 |
rs1803595754 |
GRCh37: 8:6299591-6299591 GRCh38: 8:6442070-6442070 |
11 |
MCPH1 |
NM_024596.5(MCPH1):c.321dup (p.Arg108fs) |
DUP |
Pathogenic
|
523934 |
rs759663956 |
GRCh37: 8:6289098-6289099 GRCh38: 8:6431577-6431578 |
12 |
MCPH1-AS1, MCPH1 |
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) |
SNV |
Pathogenic
|
1324707 |
|
GRCh37: 8:6478981-6478981 GRCh38: 8:6621460-6621460 |
13 |
MCPH1 |
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) |
DEL |
Pathogenic
|
158830 |
rs587783735 |
GRCh37: 8:6312707-6312708 GRCh38: 8:6455186-6455187 |
14 |
MCPH1 |
NM_024596.5(MCPH1):c.313A>T (p.Lys105Ter) |
SNV |
Pathogenic
|
489240 |
rs1424203921 |
GRCh37: 8:6289099-6289099 GRCh38: 8:6431578-6431578 |
15 |
MCPH1-AS1, MCPH1 |
NM_024596.5(MCPH1):c.2453-1G>C |
SNV |
Pathogenic
|
158863 |
rs587783739 |
GRCh37: 8:6500514-6500514 GRCh38: 8:6642993-6642993 |
16 |
MCPH1 |
NM_024596.5(MCPH1):c.22+2_22+4del |
DEL |
Pathogenic
|
435838 |
rs1554471681 |
GRCh37: 8:6264212-6264214 GRCh38: 8:6406691-6406693 |
17 |
MCPH1 |
NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer) |
DEL |
Pathogenic
|
1705328 |
|
GRCh37: 8:6296514-6296514 GRCh38: 8:6438993-6438993 |
18 |
MCPH1 |
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) |
DUP |
Pathogenic
|
3455 |
rs199422125 |
GRCh37: 8:6293668-6293669 GRCh38: 8:6436147-6436148 |
19 |
CENPJ |
NM_018451.5(CENPJ):c.18del (p.Ser7fs) |
DEL |
Pathogenic
|
1817 |
rs199422202 |
GRCh37: 13:25487146-25487146 GRCh38: 13:24913008-24913008 |
20 |
MCPH1 |
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) |
SNV |
Pathogenic
|
3454 |
rs121434305 |
GRCh37: 8:6266851-6266851 GRCh38: 8:6409330-6409330 |
21 |
ASPM |
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) |
SNV |
Pathogenic
|
21569 |
rs199422151 |
GRCh37: 1:197094320-197094320 GRCh38: 1:197125190-197125190 |
22 |
ASPM |
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) |
SNV |
Pathogenic
|
21570 |
rs199422152 |
GRCh37: 1:197094291-197094291 GRCh38: 1:197125161-197125161 |
23 |
MCPH1 |
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) |
DUP |
Pathogenic
|
30639 |
rs753597039 |
GRCh37: 8:6296599-6296600 GRCh38: 8:6439078-6439079 |
24 |
MCPH1 |
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu) |
SNV |
Pathogenic
|
30641 |
rs387906961 |
GRCh37: 8:6272386-6272386 GRCh38: 8:6414865-6414865 |
25 |
ASPM |
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) |
DEL |
Pathogenic
|
21606 |
rs199422173 |
GRCh37: 1:197070598-197070599 GRCh38: 1:197101468-197101469 |
26 |
MCPH1 |
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) |
INSERT |
Likely Pathogenic
|
435835 |
rs1554496609 |
GRCh37: 8:6312761-6312762 GRCh38: 8:6455240-6455241 |
27 |
MCPH1 |
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) |
SNV |
Likely Pathogenic
|
158867 |
rs587783741 |
GRCh37: 8:6289064-6289064 GRCh38: 8:6431543-6431543 |
28 |
MCPH1 |
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) |
SNV |
Likely Pathogenic
|
158819 |
rs587783733 |
GRCh37: 8:6272299-6272299 GRCh38: 8:6414778-6414778 |
29 |
MCPH1 |
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile) |
SNV |
Likely Pathogenic
|
1065484 |
|
GRCh37: 8:6272314-6272314 GRCh38: 8:6414793-6414793 |
30 |
MCPH1 |
NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys) |
SNV |
Likely Pathogenic
|
997786 |
|
GRCh37: 8:6266841-6266841 GRCh38: 8:6409320-6409320 |
31 |
MCPH1 |
NM_024596.5(MCPH1):c.114+1G>T |
SNV |
Likely Pathogenic
|
1324708 |
|
GRCh37: 8:6266892-6266892 GRCh38: 8:6409371-6409371 |
32 |
MCPH1 |
NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer) |
DEL |
Likely Pathogenic
|
1324709 |
|
GRCh37: 8:6338388-6338389 GRCh38: 8:6480867-6480868 |
33 |
MCPH1 |
NM_024596.5(MCPH1):c.1935+1G>T |
SNV |
Likely Pathogenic
|
1324710 |
rs752837724 |
GRCh37: 8:6312774-6312774 GRCh38: 8:6455253-6455253 |
34 |
MCPH1 |
NM_024596.5(MCPH1):c.2002del (p.Asp668fs) |
DEL |
Likely Pathogenic
|
931382 |
rs1809112398 |
GRCh37: 8:6338262-6338262 GRCh38: 8:6480741-6480741 |
35 |
MCPH1 |
NM_024596.5(MCPH1):c.1974-2A>G |
SNV |
Likely Pathogenic
|
420681 |
rs541042265 |
GRCh37: 8:6338233-6338233 GRCh38: 8:6480712-6480712 |
36 |
MCPH1 |
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) |
SNV |
Likely Pathogenic
|
267732 |
rs572671721 |
GRCh37: 8:6302804-6302804 GRCh38: 8:6445283-6445283 |
37 |
ANGPT2, MCPH1 |
NM_024596.5(MCPH1):c.2214+2T>C |
SNV |
Likely Pathogenic
|
873472 |
rs575037500 |
GRCh37: 8:6357452-6357452 GRCh38: 8:6499931-6499931 |
38 |
MCPH1 |
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
96129 |
rs146586991 |
GRCh37: 8:6302738-6302738 GRCh38: 8:6445217-6445217 |
39 |
MCPH1-AS1, MCPH1 |
NM_024596.5(MCPH1):c.2453-14C>T |
SNV |
Conflicting Interpretations Of Pathogenicity
|
158862 |
rs17077744 |
GRCh37: 8:6500501-6500501 GRCh38: 8:6642980-6642980 |
40 |
MCPH1 |
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
499746 |
rs77959215 |
GRCh37: 8:6302592-6302592 GRCh38: 8:6445071-6445071 |
41 |
ANGPT2, MCPH1 |
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
285523 |
rs201599657 |
GRCh37: 8:6357381-6357381 GRCh38: 8:6499860-6499860 |
42 |
MCPH1 |
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) |
SNV |
Uncertain Significance
|
158870 |
rs41313948 |
GRCh37: 8:6296514-6296514 GRCh38: 8:6438993-6438993 |
43 |
MCPH1-AS1, MCPH1 |
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) |
SNV |
Uncertain Significance
|
158856 |
rs45540031 |
GRCh37: 8:6479161-6479161 GRCh38: 8:6621640-6621640 |
44 |
MCPH1 |
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) |
SNV |
Uncertain Significance
|
211449 |
rs199700538 |
GRCh37: 8:6302026-6302026 GRCh38: 8:6444505-6444505 |
45 |
MCPH1 |
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) |
SNV |
Uncertain Significance
|
727404 |
rs201026769 |
GRCh37: 8:6302476-6302476 GRCh38: 8:6444955-6444955 |
46 |
ANGPT2, MCPH1 |
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) |
SNV |
Uncertain Significance
|
194122 |
rs199861426 |
GRCh37: 8:6357416-6357416 GRCh38: 8:6499895-6499895 |
47 |
MCPH1 |
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) |
SNV |
Uncertain Significance
|
363525 |
rs548329168 |
GRCh37: 8:6302646-6302646 GRCh38: 8:6445125-6445125 |
48 |
MCPH1 |
NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn) |
SNV |
Uncertain Significance
|
1333265 |
|
GRCh37: 8:6272306-6272306 GRCh38: 8:6414785-6414785 |
49 |
MCPH1 |
NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) |
SNV |
Uncertain Significance
|
1333562 |
|
GRCh37: 8:6302673-6302673 GRCh38: 8:6445152-6445152 |
50 |
MCPH1 |
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) |
SNV |
Uncertain Significance
|
499423 |
rs556803400 |
GRCh37: 8:6302457-6302457 GRCh38: 8:6444936-6444936 |