1 |
PLEKHG2, DLL3 |
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) |
MICROSAT |
Pathogenic
|
6828 |
rs786200899 |
GRCh37: 19:39993644-39993648 GRCh38: 19:39502998-39502999 |
2 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.995G>T (p.Gly332Val) |
SNV |
Pathogenic
|
1601166 |
|
GRCh37: 19:39908657-39908657 GRCh38: 19:39418017-39418017 |
3 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) |
SNV |
Likely Pathogenic
|
522394 |
rs201201843 |
GRCh37: 19:39907506-39907506 GRCh38: 19:39416866-39416866 |
4 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.3007G>A (p.Ala1003Thr) |
SNV |
Uncertain Significance
|
982660 |
rs372208970 |
GRCh37: 19:39914780-39914780 GRCh38: 19:39424140-39424140 |
5 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.2543G>A (p.Arg848Gln) |
SNV |
Uncertain Significance
|
1029862 |
rs199844800 |
GRCh37: 19:39914237-39914237 GRCh38: 19:39423597-39423597 |
6 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile) |
SNV |
Uncertain Significance
|
1029863 |
rs144287050 |
GRCh37: 19:39914819-39914819 GRCh38: 19:39424179-39424179 |
7 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.4012A>G (p.Thr1338Ala) |
SNV |
Uncertain Significance
|
1029864 |
rs2078765401 |
GRCh37: 19:39915785-39915785 GRCh38: 19:39425145-39425145 |
8 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.4039G>A (p.Gly1347Arg) |
SNV |
Uncertain Significance
|
1029865 |
rs374916077 |
GRCh37: 19:39915812-39915812 GRCh38: 19:39425172-39425172 |
9 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.3569A>T (p.Gln1190Leu) |
SNV |
Uncertain Significance
|
1031349 |
rs764066772 |
GRCh37: 19:39915342-39915342 GRCh38: 19:39424702-39424702 |
10 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.1046G>A (p.Arg349His) |
SNV |
Uncertain Significance
|
1034014 |
rs956539284 |
GRCh37: 19:39908708-39908708 GRCh38: 19:39418068-39418068 |
11 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.112C>T (p.Pro38Ser) |
SNV |
Uncertain Significance
|
1034015 |
rs767924564 |
GRCh37: 19:39905634-39905634 GRCh38: 19:39414994-39414994 |
12 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.1358C>T (p.Pro453Leu) |
SNV |
Uncertain Significance
|
1034016 |
rs34975345 |
GRCh37: 19:39911451-39911451 GRCh38: 19:39420811-39420811 |
13 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.1426C>T (p.Arg476Cys) |
SNV |
Uncertain Significance
|
1034018 |
rs867114386 |
GRCh37: 19:39911615-39911615 GRCh38: 19:39420975-39420975 |
14 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.1677+5G>A |
SNV |
Uncertain Significance
|
1034019 |
rs370089865 |
GRCh37: 19:39912933-39912933 GRCh38: 19:39422293-39422293 |
15 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.2998C>A (p.Pro1000Thr) |
SNV |
Uncertain Significance
|
1034020 |
rs758892992 |
GRCh37: 19:39914771-39914771 GRCh38: 19:39424131-39424131 |
16 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.3202G>A (p.Asp1068Asn) |
SNV |
Uncertain Significance
|
1034021 |
rs2078749579 |
GRCh37: 19:39914975-39914975 GRCh38: 19:39424335-39424335 |
17 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.3272G>A (p.Gly1091Asp) |
SNV |
Uncertain Significance
|
1299695 |
|
GRCh37: 19:39915045-39915045 GRCh38: 19:39424405-39424405 |
18 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.2188G>A (p.Ala730Thr) |
SNV |
Uncertain Significance
|
1299696 |
rs140550857 |
GRCh37: 19:39913882-39913882 GRCh38: 19:39423242-39423242 |
19 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.1042A>G (p.Lys348Glu) |
SNV |
Uncertain Significance
|
638339 |
rs1600652197 |
GRCh37: 19:39908704-39908704 GRCh38: 19:39418064-39418064 |
20 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.2599+15C>T |
SNV |
Benign
|
1165033 |
|
GRCh37: 19:39914308-39914308 GRCh38: 19:39423668-39423668 |
21 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.378+3A>G |
SNV |
Benign
|
1165759 |
|
GRCh37: 19:39905903-39905903 GRCh38: 19:39415263-39415263 |
22 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.480-3T>C |
SNV |
Benign
|
1165760 |
|
GRCh37: 19:39906985-39906985 GRCh38: 19:39416345-39416345 |
23 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.528C>T (p.Ala176=) |
SNV |
Benign
|
1165761 |
|
GRCh37: 19:39907036-39907036 GRCh38: 19:39416396-39416396 |
24 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.912C>T (p.Thr304=) |
SNV |
Benign
|
1165762 |
|
GRCh37: 19:39908574-39908574 GRCh38: 19:39417934-39417934 |
25 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.2975G>A (p.Arg992Lys) |
SNV |
Benign
|
1165763 |
|
GRCh37: 19:39914748-39914748 GRCh38: 19:39424108-39424108 |
26 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.3864G>A (p.Gln1288=) |
SNV |
Benign
|
1165764 |
|
GRCh37: 19:39915637-39915637 GRCh38: 19:39424997-39424997 |
27 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.3985C>G (p.Pro1329Ala) |
SNV |
Benign
|
1165765 |
|
GRCh37: 19:39915758-39915758 GRCh38: 19:39425118-39425118 |
28 |
PLEKHG2 |
NM_022835.3(PLEKHG2):c.1940G>A (p.Arg647His) |
SNV |
Benign
|
1166483 |
|
GRCh37: 19:39913634-39913634 GRCh38: 19:39422994-39422994 |
29 |
PLEKHG2, DLL3 |
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys) |
SNV |
Benign
|
41378 |
rs8107127 |
GRCh37: 19:39993560-39993560 GRCh38: 19:39502920-39502920 |