1 |
NF1 |
NM_001042492.3(NF1):c.1882del (p.Tyr628fs) |
DEL |
Pathogenic
|
1213688 |
|
GRCh37: 17:29552144-29552144 GRCh38: 17:31225126-31225126 |
2 |
NF1 |
NM_001042492.3(NF1):c.888+2T>G |
SNV |
Pathogenic
|
951075 |
rs2066160116 |
GRCh37: 17:29509685-29509685 GRCh38: 17:31182667-31182667 |
3 |
NF1 |
NM_001042492.3(NF1):c.6897del (p.Lys2300fs) |
DEL |
Pathogenic
|
1527847 |
|
GRCh37: 17:29665798-29665798 GRCh38: 17:31338780-31338780 |
4 |
NF1 |
NF1, 80-KB DEL |
DEL |
Pathogenic
|
342 |
|
GRCh37: GRCh38: |
5 |
NF1 |
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) |
SNV |
Pathogenic
|
576444 |
rs1567847905 |
GRCh37: 17:29554250-29554250 GRCh38: 17:31227232-31227232 |
6 |
NF1 |
NM_001042492.3(NF1):c.3870+1G>T |
SNV |
Pathogenic
|
565498 |
rs1131691075 |
GRCh37: 17:29562791-29562791 GRCh38: 17:31235773-31235773 |
7 |
NF1 |
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) |
SNV |
Pathogenic
|
570950 |
rs1567862991 |
GRCh37: 17:29587499-29587499 GRCh38: 17:31260481-31260481 |
8 |
NF1 |
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) |
SNV |
Pathogenic
|
187652 |
rs786203896 |
GRCh37: 17:29657486-29657486 GRCh38: 17:31330468-31330468 |
9 |
NF1 |
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) |
SNV |
Pathogenic
|
428948 |
rs1131691073 |
GRCh37: 17:29667571-29667571 GRCh38: 17:31340553-31340553 |
10 |
NF1 |
NM_001042492.3(NF1):c.60+18227_60+18228insGGGCATGAACAACAGAAACTACCTGCTGCCACCTTGGCTTTA |
INSERT |
Pathogenic
|
341 |
|
GRCh37: 17:29440614-29440615 GRCh38: 17:31113596-31113597 |
11 |
NF1 |
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) |
SNV |
Pathogenic
|
184261 |
rs786201367 |
GRCh37: 17:29684326-29684326 GRCh38: 17:31357308-31357308 |
12 |
NF1 |
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) |
SNV |
Pathogenic
|
230673 |
rs778405030 |
GRCh37: 17:29533315-29533315 GRCh38: 17:31206297-31206297 |
13 |
NF1 |
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) |
SNV |
Pathogenic
|
185354 |
rs786202112 |
GRCh37: 17:29654857-29654857 GRCh38: 17:31327839-31327839 |
14 |
NF1 |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) |
SNV |
Pathogenic
|
343 |
rs137854552 |
GRCh37: 17:29661945-29661945 GRCh38: 17:31334927-31334927 |
15 |
NF1 |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) |
DEL |
Pathogenic
|
363 |
rs267606606 |
GRCh37: 17:29556972-29556974 GRCh38: 17:31229954-31229956 |
16 |
NF1 |
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) |
SNV |
Pathogenic
|
208854 |
rs771529172 |
GRCh37: 17:29654737-29654737 GRCh38: 17:31327719-31327719 |
17 |
NF1 |
NM_001042492.3(NF1):c.6006+1G>A |
SNV |
Pathogenic
|
488817 |
rs1555534433 |
GRCh37: 17:29662050-29662050 GRCh38: 17:31335032-31335032 |
18 |
NF1 |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) |
SNV |
Pathogenic
|
185082 |
rs772295894 |
GRCh37: 17:29665757-29665757 GRCh38: 17:31338739-31338739 |
19 |
NF1 |
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) |
SNV |
Pathogenic
Pathogenic
|
68341 |
rs137854556 |
GRCh37: 17:29562747-29562747 GRCh38: 17:31235729-31235729 |
20 |
NF1 |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) |
SNV |
Pathogenic
|
208853 |
rs797045139 |
GRCh37: 17:29654736-29654736 GRCh38: 17:31327718-31327718 |
21 |
NF1 |
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) |
SNV |
Pathogenic
|
280055 |
rs886041347 |
GRCh37: 17:29556079-29556079 GRCh38: 17:31229061-31229061 |
22 |
NF1 |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) |
SNV |
Pathogenic
|
68323 |
rs199474747 |
GRCh37: 17:29556173-29556173 GRCh38: 17:31229155-31229155 |
23 |
NF1 |
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) |
SNV |
Pathogenic
|
527517 |
rs1187097568 |
GRCh37: 17:29559848-29559848 GRCh38: 17:31232830-31232830 |
24 |
NF1 |
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) |
SNV |
Pathogenic
|
428982 |
rs1131691103 |
GRCh37: 17:29654559-29654559 GRCh38: 17:31327541-31327541 |
25 |
NF1 |
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) |
SNV |
Pathogenic
|
336 |
rs137854550 |
GRCh37: 17:29585518-29585518 GRCh38: 17:31258500-31258500 |
26 |
NF1 |
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) |
SNV |
Pathogenic
|
233869 |
rs876660696 |
GRCh37: 17:29662034-29662034 GRCh38: 17:31335016-31335016 |
27 |
NF1 |
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) |
SNV |
Likely Pathogenic
|
457650 |
rs1064794277 |
GRCh37: 17:29559850-29559850 GRCh38: 17:31232832-31232832 |
28 |
NF1 |
NM_001042492.3(NF1):c.1392+5G>T |
SNV |
Uncertain Significance
|
480071 |
rs199999754 |
GRCh37: 17:29533394-29533394 GRCh38: 17:31206376-31206376 |
29 |
NF1 |
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) |
SNV |
Uncertain Significance
|
184278 |
rs140653372 |
GRCh37: 17:29552254-29552254 GRCh38: 17:31225236-31225236 |
30 |
NF1 |
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) |
SNV |
Uncertain Significance
Uncertain Significance
|
142804 |
rs368654378 |
GRCh37: 17:29654761-29654761 GRCh38: 17:31327743-31327743 |
31 |
LOC111811965, NF1 |
NM_000267.3(NF1):c.-363T>C |
SNV |
Uncertain Significance
|
890653 |
rs1911498673 |
GRCh37: 17:29421965-29421965 GRCh38: 17:31094947-31094947 |
32 |
NF1 |
NM_001042492.3(NF1):c.731-6A>C |
SNV |
Uncertain Significance
|
215725 |
rs369366499 |
GRCh37: 17:29509520-29509520 GRCh38: 17:31182502-31182502 |
33 |
NF1 |
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg) |
SNV |
Uncertain Significance
|
230614 |
rs779546178 |
GRCh37: 17:29553474-29553474 GRCh38: 17:31226456-31226456 |
34 |
NF1 |
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) |
SNV |
Uncertain Significance
|
141451 |
rs201047812 |
GRCh37: 17:29559839-29559839 GRCh38: 17:31232821-31232821 |
35 |
NF1 |
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) |
SNV |
Uncertain Significance
|
141711 |
rs138227618 |
GRCh37: 17:29585395-29585395 GRCh38: 17:31258377-31258377 |
36 |
NF1 |
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) |
SNV |
Uncertain Significance
|
184710 |
rs140994965 |
GRCh37: 17:29653051-29653051 GRCh38: 17:31326033-31326033 |
37 |
NF1 |
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) |
SNV |
Uncertain Significance
|
231040 |
rs773378630 |
GRCh37: 17:29653162-29653162 GRCh38: 17:31326144-31326144 |
38 |
NF1 |
NM_001042492.3(NF1):c.7110C>T (p.His2370=) |
SNV |
Uncertain Significance
|
413033 |
rs201881479 |
GRCh37: 17:29670074-29670074 GRCh38: 17:31343056-31343056 |
39 |
NF1 |
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr) |
SNV |
Uncertain Significance
|
484027 |
rs772543826 |
GRCh37: 17:29554593-29554593 GRCh38: 17:31227575-31227575 |
40 |
NF1 |
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) |
SNV |
Uncertain Significance
|
41679 |
rs201824349 |
GRCh37: 17:29685632-29685632 GRCh38: 17:31358614-31358614 |
41 |
NF1 |
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) |
SNV |
Uncertain Significance
|
184320 |
rs138186428 |
GRCh37: 17:29562787-29562787 GRCh38: 17:31235769-31235769 |
42 |
NF1 |
NM_001042492.3(NF1):c.7323T>G (p.Ala2441=) |
SNV |
Uncertain Significance
|
413024 |
rs765750009 |
GRCh37: 17:29677202-29677202 GRCh38: 17:31350184-31350184 |
43 |
NF1 |
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) |
SNV |
Uncertain Significance
|
141895 |
rs146315101 |
GRCh37: 17:29685568-29685568 GRCh38: 17:31358550-31358550 |
44 |
NF1 |
NM_001042492.3(NF1):c.1866T>C (p.Cys622=) |
SNV |
Uncertain Significance
|
237524 |
rs753245823 |
GRCh37: 17:29552133-29552133 GRCh38: 17:31225115-31225115 |
45 |
NF1 |
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) |
SNV |
Uncertain Significance
|
141844 |
rs149055633 |
GRCh37: 17:29679337-29679337 GRCh38: 17:31352319-31352319 |
46 |
NF1 |
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) |
SNV |
Uncertain Significance
|
216411 |
rs748027595 |
GRCh37: 17:29677275-29677275 GRCh38: 17:31350257-31350257 |
47 |
NF1 |
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) |
SNV |
Uncertain Significance
|
220184 |
rs377662483 |
GRCh37: 17:29677233-29677233 GRCh38: 17:31350215-31350215 |
48 |
NF1 |
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) |
SNV |
Uncertain Significance
|
484003 |
rs751904277 |
GRCh37: 17:29657433-29657433 GRCh38: 17:31330415-31330415 |
49 |
NF1 |
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) |
SNV |
Uncertain Significance
|
404507 |
rs1060500310 |
GRCh37: 17:29585389-29585389 GRCh38: 17:31258371-31258371 |
50 |
NF1 |
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val) |
SNV |
Uncertain Significance
|
457669 |
rs746583007 |
GRCh37: 17:29562731-29562731 GRCh38: 17:31235713-31235713 |