1 |
PTPN11 |
NM_002834.5(PTPN11):c.409_413del (p.Val137fs) |
DEL |
Pathogenic
|
31547 |
rs398122857 |
GRCh37: 12:112891075-112891079 GRCh38: 12:112453271-112453275 |
2 |
PTPN11 |
NM_002834.5(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs) |
INDEL |
Pathogenic
|
31548 |
rs398122858 |
GRCh37: 12:112891124-112891129 GRCh38: 12:112453320-112453325 |
3 |
PTPN11 |
NM_002834.5(PTPN11):c.353_354del (p.Ser118fs) |
MICROSAT |
Pathogenic
|
31549 |
rs398122859 |
GRCh37: 12:112891014-112891015 GRCh38: 12:112453210-112453211 |
4 |
PTPN11 |
NM_002834.5(PTPN11):c.1516C>T (p.Gln506Ter) |
SNV |
Pathogenic
|
31550 |
rs387907157 |
GRCh37: 12:112926896-112926896 GRCh38: 12:112489092-112489092 |
5 |
PTPN11 |
NM_002834.5(PTPN11):c.1315del (p.Leu439fs) |
DEL |
Pathogenic
|
31551 |
rs398122860 |
GRCh37: 12:112924368-112924368 GRCh38: 12:112486564-112486564 |
6 |
PTPN11 |
NM_002834.5(PTPN11):c.643-2A>C |
SNV |
Pathogenic
|
31552 |
rs398122861 |
GRCh37: 12:112893752-112893752 GRCh38: 12:112455948-112455948 |
7 |
PTPN11 |
NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter) |
SNV |
Pathogenic
|
31553 |
rs387907158 |
GRCh37: 12:112888279-112888279 GRCh38: 12:112450475-112450475 |
8 |
PTPN11 |
NM_002834.5(PTPN11):c.1093-1G>T |
SNV |
Pathogenic
|
31554 |
rs398122862 |
GRCh37: 12:112919877-112919877 GRCh38: 12:112482073-112482073 |
9 |
PTPN11 |
NG_007459.1:g.45924_60608delinsCA |
INDEL |
Pathogenic
|
31555 |
|
GRCh37: 12:112897459-112912143 GRCh38: 12:112459655-112474339 |
10 |
PTPN11 |
NM_002834.5(PTPN11):c.661del (p.Arg220_Ile221insTer) |
DEL |
Pathogenic
|
44611 |
rs397516807 |
GRCh37: 12:112893772-112893772 GRCh38: 12:112455968-112455968 |
11 |
PTPN11 |
NM_002834.5(PTPN11):c.1339del (p.Glu447fs) |
DEL |
Pathogenic
|
829985 |
rs1592852978 |
GRCh37: 12:112924392-112924392 GRCh38: 12:112486588-112486588 |
12 |
PTPN11 |
NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter) |
SNV |
Pathogenic
|
13348 |
rs267606989 |
GRCh37: 12:112891078-112891078 GRCh38: 12:112453274-112453274 |
13 |
PTPN11 |
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) |
SNV |
Pathogenic
|
40502 |
rs397507514 |
GRCh37: 12:112888212-112888212 GRCh38: 12:112450408-112450408 |
14 |
PTPN11 |
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) |
SNV |
Pathogenic
|
13349 |
rs267606990 |
GRCh37: 12:112856920-112856920 GRCh38: 12:112419116-112419116 |
15 |
PTPN11 |
NM_002834.5(PTPN11):c.514_524del (p.Ile172fs) |
DEL |
Pathogenic
|
13347 |
|
GRCh37: 12:112891180-112891190 GRCh38: 12:112453376-112453386 |
16 |
PTPN11 |
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) |
SNV |
Pathogenic
|
40489 |
rs397507506 |
GRCh37: 12:112888158-112888158 GRCh38: 12:112450354-112450354 |
17 |
PTPN11 |
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) |
SNV |
Pathogenic
|
40558 |
rs397507545 |
GRCh37: 12:112926887-112926887 GRCh38: 12:112489083-112489083 |
18 |
PTPN11 |
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) |
SNV |
Pathogenic
|
13325 |
rs121918454 |
GRCh37: 12:112888199-112888199 GRCh38: 12:112450395-112450395 |
19 |
PTPN11 |
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) |
SNV |
Pathogenic
|
40513 |
rs397507520 |
GRCh37: 12:112891083-112891083 GRCh38: 12:112453279-112453279 |
20 |
PTPN11 |
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) |
SNV |
Pathogenic
|
13334 |
rs121918462 |
GRCh37: 12:112888202-112888202 GRCh38: 12:112450398-112450398 |
21 |
PTPN11 |
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) |
SNV |
Pathogenic
Pathogenic
|
13326 |
rs28933386 |
GRCh37: 12:112915523-112915523 GRCh38: 12:112477719-112477719 |
22 |
PTPN11 |
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) |
SNV |
Pathogenic
|
13340 |
rs121918466 |
GRCh37: 12:112888220-112888220 GRCh38: 12:112450416-112450416 |
23 |
PTPN11 |
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) |
SNV |
Pathogenic
|
13331 |
rs121918457 |
GRCh37: 12:112926270-112926270 GRCh38: 12:112488466-112488466 |
24 |
PTPN11 |
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) |
SNV |
Pathogenic
Pathogenic
|
13333 |
rs121918459 |
GRCh37: 12:112888172-112888172 GRCh38: 12:112450368-112450368 |
25 |
PTPN11 |
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) |
SNV |
Pathogenic
|
13327 |
rs121918455 |
GRCh37: 12:112915524-112915524 GRCh38: 12:112477720-112477720 |
26 |
PTPN11 |
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) |
SNV |
Pathogenic
|
13329 |
rs121918460 |
GRCh37: 12:112888168-112888168 GRCh38: 12:112450364-112450364 |
27 |
PTPN11 |
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) |
SNV |
Pathogenic
|
13324 |
rs121918453 |
GRCh37: 12:112888198-112888198 GRCh38: 12:112450394-112450394 |
28 |
PTPN11 |
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) |
SNV |
Pathogenic
|
40528 |
rs397507531 |
GRCh37: 12:112910844-112910844 GRCh38: 12:112473040-112473040 |
29 |
PTPN11 |
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) |
SNV |
Pathogenic
|
40559 |
rs397507545 |
GRCh37: 12:112926887-112926887 GRCh38: 12:112489083-112489083 |
30 |
PTPN11 |
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) |
SNV |
Pathogenic
Pathogenic
|
40562 |
rs397507547 |
GRCh37: 12:112926890-112926890 GRCh38: 12:112489086-112489086 |
31 |
PTPN11 |
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) |
SNV |
Pathogenic
|
40487 |
rs397507505 |
GRCh37: 12:112888156-112888156 GRCh38: 12:112450352-112450352 |
32 |
PTPN11 |
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) |
SNV |
Pathogenic
|
13328 |
rs121918456 |
GRCh37: 12:112910827-112910827 GRCh38: 12:112473023-112473023 |
33 |
PTPN11 |
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) |
SNV |
Pathogenic
Pathogenic
|
40522 |
rs376607329 |
GRCh37: 12:112910785-112910785 GRCh38: 12:112472981-112472981 |
34 |
PTPN11 |
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) |
SNV |
Pathogenic
|
40525 |
rs397507529 |
GRCh37: 12:112910835-112910835 GRCh38: 12:112473031-112473031 |
35 |
PTPN11 |
NM_002834.5(PTPN11):c.1546_1547insCTATCTATA (p.Tyr515_Met516insThrIleTyr) |
INSERT |
Likely Pathogenic
|
1708482 |
|
GRCh37: 12:112926918-112926919 GRCh38: 12:112489114-112489115 |
36 |
PTPN11 |
NM_002834.5(PTPN11):c.1070del (p.Thr357fs) |
DEL |
Likely Pathogenic
|
1679347 |
|
GRCh37: 12:112915797-112915797 GRCh38: 12:112477993-112477993 |
37 |
PTPN11 |
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) |
SNV |
Likely Pathogenic
|
40527 |
rs397507531 |
GRCh37: 12:112910844-112910844 GRCh38: 12:112473040-112473040 |
38 |
PTPN11 |
NM_002834.5(PTPN11):c.265_269del (p.Lys89fs) |
DEL |
Uncertain Significance
|
981580 |
|
GRCh37: 12:112888248-112888252 GRCh38: 12:112450444-112450448 |
39 |
PTPN11 |
NM_002834.5(PTPN11):c.*1015C>G |
SNV |
Uncertain Significance
|
307237 |
rs538946251 |
GRCh37: 12:112944611-112944611 GRCh38: 12:112506807-112506807 |
40 |
PTPN11 |
NM_002834.5(PTPN11):c.*1536T>G |
SNV |
Uncertain Significance
|
307246 |
rs371375321 |
GRCh37: 12:112945132-112945132 GRCh38: 12:112507328-112507328 |
41 |
PTPN11 |
NM_002834.5(PTPN11):c.14+8G>T |
SNV |
Uncertain Significance
|
307224 |
rs886048965 |
GRCh37: 12:112856937-112856937 GRCh38: 12:112419133-112419133 |
42 |
PTPN11 |
NM_002834.5(PTPN11):c.-139G>A |
SNV |
Uncertain Significance
|
307223 |
rs886048964 |
GRCh37: 12:112856777-112856777 GRCh38: 12:112418973-112418973 |
43 |
PTPN11 |
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) |
SNV |
Uncertain Significance
|
488168 |
rs1555267825 |
GRCh37: 12:112891139-112891139 GRCh38: 12:112453335-112453335 |
44 |
PTPN11 |
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) |
SNV |
Uncertain Significance
|
40540 |
rs146571700 |
GRCh37: 12:112915775-112915775 GRCh38: 12:112477971-112477971 |
45 |
PTPN11 |
NM_002834.5(PTPN11):c.*802G>A |
SNV |
Uncertain Significance
|
882617 |
rs753900307 |
GRCh37: 12:112944398-112944398 GRCh38: 12:112506594-112506594 |
46 |
PTPN11 |
NM_002834.5(PTPN11):c.*1616C>T |
SNV |
Uncertain Significance
|
882664 |
rs1340461859 |
GRCh37: 12:112945212-112945212 GRCh38: 12:112507408-112507408 |
47 |
PTPN11 |
NM_002834.5(PTPN11):c.*2179C>T |
SNV |
Uncertain Significance
|
882713 |
rs1269783582 |
GRCh37: 12:112945775-112945775 GRCh38: 12:112507971-112507971 |
48 |
PTPN11 |
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu) |
SNV |
Uncertain Significance
|
591599 |
rs1566185599 |
GRCh37: 12:112924415-112924415 GRCh38: 12:112486611-112486611 |
49 |
PTPN11 |
NM_002834.5(PTPN11):c.1379+6A>G |
SNV |
Uncertain Significance
|
496182 |
rs746958309 |
GRCh37: 12:112924439-112924439 GRCh38: 12:112486635-112486635 |
50 |
PTPN11 |
NM_002834.5(PTPN11):c.*682T>C |
SNV |
Uncertain Significance
|
883350 |
rs1223950825 |
GRCh37: 12:112944278-112944278 GRCh38: 12:112506474-112506474 |