1 |
overlap with 54 genes |
NC_000008.10:g.(?_144295143)_(145701139_?)del |
DEL |
Pathogenic
|
1454990 |
|
GRCh37: 8:144295143-145701139 GRCh38: |
2 |
PLEC |
NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) |
DEL |
Pathogenic
|
538947 |
rs1554689309 |
GRCh37: 8:144996482-144996485 GRCh38: 8:143922314-143922317 |
3 |
PLEC |
NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) |
DUP |
Pathogenic
|
840189 |
rs1186518181 |
GRCh37: 8:144995904-144995905 GRCh38: 8:143921736-143921737 |
4 |
PLEC |
NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter) |
SNV |
Pathogenic
|
1069886 |
|
GRCh37: 8:144991571-144991571 GRCh38: 8:143917403-143917403 |
5 |
PLEC |
NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter) |
SNV |
Pathogenic
|
1071954 |
|
GRCh37: 8:144996761-144996761 GRCh38: 8:143922593-143922593 |
6 |
PLEC |
NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter) |
SNV |
Pathogenic
|
1073588 |
|
GRCh37: 8:144990883-144990883 GRCh38: 8:143916715-143916715 |
7 |
PLEC |
NM_201384.3(PLEC):c.6510del (p.His2170fs) |
DEL |
Pathogenic
|
1074096 |
|
GRCh37: 8:144997587-144997587 GRCh38: 8:143923419-143923419 |
8 |
PLEC |
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) |
SNV |
Pathogenic
|
30174 |
rs387906802 |
GRCh37: 8:144997223-144997223 GRCh38: 8:143923055-143923055 |
9 |
PLEC |
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) |
SNV |
Pathogenic
|
8266 |
rs137853161 |
GRCh37: 8:144994985-144994985 GRCh38: 8:143920817-143920817 |
10 |
PLEC |
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter) |
SNV |
Pathogenic
|
620547 |
rs782107643 |
GRCh37: 8:144997187-144997187 GRCh38: 8:143923019-143923019 |
11 |
PLEC |
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) |
SNV |
Pathogenic
Likely Pathogenic
|
1251952 |
|
GRCh37: 8:144995840-144995840 GRCh38: 8:143921672-143921672 |
12 |
PLEC |
NM_201384.3(PLEC):c.2551del (p.Val851fs) |
DEL |
Pathogenic
|
1385604 |
|
GRCh37: 8:145004373-145004373 GRCh38: 8:143930205-143930205 |
13 |
PLEC |
NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter) |
SNV |
Pathogenic
|
1427195 |
|
GRCh37: 8:145004421-145004421 GRCh38: 8:143930253-143930253 |
14 |
PLEC |
NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter) |
SNV |
Pathogenic
|
1453848 |
|
GRCh37: 8:144993416-144993416 GRCh38: 8:143919248-143919248 |
15 |
PLEC |
NM_201384.3(PLEC):c.12926dup (p.Arg4310fs) |
DUP |
Pathogenic
|
1454360 |
|
GRCh37: 8:144991062-144991063 GRCh38: 8:143916894-143916895 |
16 |
PLEC |
NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter) |
SNV |
Pathogenic
|
1455035 |
|
GRCh37: 8:144997433-144997433 GRCh38: 8:143923265-143923265 |
17 |
PLEC |
NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter) |
SNV |
Pathogenic
|
1459260 |
|
GRCh37: 8:144998927-144998927 GRCh38: 8:143924759-143924759 |
18 |
PLEC |
NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter) |
SNV |
Pathogenic
|
1324937 |
|
GRCh37: 8:144999629-144999629 GRCh38: 8:143925461-143925461 |
19 |
PLEC |
NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs) |
DEL |
Pathogenic
|
501798 |
rs1554681167 |
GRCh37: 8:144994430-144994431 GRCh38: 8:143920262-143920263 |
20 |
PLEC |
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) |
SNV |
Pathogenic
|
8262 |
rs80338756 |
GRCh37: 8:144998180-144998180 GRCh38: 8:143924012-143924012 |
21 |
PLEC |
NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter) |
SNV |
Pathogenic
|
1455166 |
|
GRCh37: 8:144997019-144997019 GRCh38: 8:143922851-143922851 |
22 |
PLEC |
NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter) |
SNV |
Pathogenic
|
1459261 |
|
GRCh37: 8:144999491-144999491 GRCh38: 8:143925323-143925323 |
23 |
PLEC |
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del) |
DEL |
Pathogenic
|
30171 |
rs864309673 |
GRCh37: 8:145047632-145047640 GRCh38: 8:143973464-143973472 |
24 |
PLEC |
NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter) |
SNV |
Pathogenic
|
1456758 |
|
GRCh37: 8:144994967-144994967 GRCh38: 8:143920799-143920799 |
25 |
PLEC |
NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter) |
SNV |
Pathogenic
|
1456815 |
|
GRCh37: 8:145001216-145001216 GRCh38: 8:143927048-143927048 |
26 |
PLEC |
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) |
MICROSAT |
Pathogenic
|
8259 |
rs786205252 |
GRCh37: 8:145004320-145004328 GRCh38: 8:143930152-143930160 |
27 |
PLEC |
NM_000445.5(PLEC):c.106_119dup (p.Gly44fs) |
DUP |
Pathogenic
|
1396569 |
|
GRCh37: 8:145049418-145049419 GRCh38: 8:143975250-143975251 |
28 |
PLEC |
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter) |
SNV |
Likely Pathogenic
Likely Benign
|
1251951 |
|
GRCh37: 8:145047575-145047575 GRCh38: 8:143973407-143973407 |
29 |
PLEC |
NM_201384.3(PLEC):c.3261-1G>A |
SNV |
Likely Pathogenic
|
577780 |
rs111730406 |
GRCh37: 8:145002161-145002161 GRCh38: 8:143927993-143927993 |
30 |
PLEC |
NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) |
SNV |
Likely Pathogenic
|
538961 |
rs1554675388 |
GRCh37: 8:144992639-144992639 GRCh38: 8:143918471-143918471 |
31 |
PLEC |
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) |
SNV |
Likely Pathogenic
|
417887 |
rs1060499581 |
GRCh37: 8:145008595-145008595 GRCh38: 8:143934427-143934427 |
32 |
PLEC |
NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) |
INDEL |
Likely Pathogenic
|
499702 |
rs1554683108 |
GRCh37: 8:144994988-144994989 GRCh38: 8:143920820-143920821 |
33 |
PLEC |
NC_000008.10:g.(?_145008466)_(145012880_?)dup |
DUP |
Likely Pathogenic
|
1510440 |
|
GRCh37: 8:145008466-145012880 GRCh38: |
34 |
PLEC and overlap with 1 gene(s) |
NC_000008.10:g.(?_145008783)_(145018851_?)dup |
DUP |
Likely Pathogenic
|
658433 |
|
GRCh37: 8:145008783-145018851 GRCh38: 8:143934615-143944683 |
35 |
PLEC |
NM_201384.3(PLEC):c.2613-7C>T |
SNV |
Uncertain Significance
|
659532 |
rs11990994 |
GRCh37: 8:145004237-145004237 GRCh38: 8:143930069-143930069 |
36 |
PLEC |
NM_201384.3(PLEC):c.11006G>A (p.Gly3669Asp) |
SNV |
Uncertain Significance
|
538994 |
rs1554676292 |
GRCh37: 8:144992983-144992983 GRCh38: 8:143918815-143918815 |
37 |
PLEC |
NM_201384.3(PLEC):c.5883C>T (p.Ser1961=) |
SNV |
Uncertain Significance
|
658078 |
rs1554695457 |
GRCh37: 8:144998214-144998214 GRCh38: 8:143924046-143924046 |
38 |
PLEC |
NM_201384.3(PLEC):c.602+4C>G |
SNV |
Uncertain Significance
|
658112 |
rs1587163504 |
GRCh37: 8:145010012-145010012 GRCh38: 8:143935844-143935844 |
39 |
PLEC |
NM_201384.3(PLEC):c.9874G>A (p.Val3292Met) |
SNV |
Uncertain Significance
|
471680 |
rs782650325 |
GRCh37: 8:144994115-144994115 GRCh38: 8:143919947-143919947 |
40 |
PLEC |
NM_201384.3(PLEC):c.5727G>T (p.Gln1909His) |
SNV |
Uncertain Significance
|
658853 |
rs1586904636 |
GRCh37: 8:144998370-144998370 GRCh38: 8:143924202-143924202 |
41 |
PLEC |
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr) |
SNV |
Uncertain Significance
|
196858 |
rs199995144 |
GRCh37: 8:144996167-144996167 GRCh38: 8:143921999-143921999 |
42 |
PLEC |
NM_201384.3(PLEC):c.13201G>A (p.Asp4401Asn) |
SNV |
Uncertain Significance
|
497165 |
rs782439392 |
GRCh37: 8:144990788-144990788 GRCh38: 8:143916620-143916620 |
43 |
PLEC |
NM_201384.3(PLEC):c.7313G>A (p.Arg2438Gln) |
SNV |
Uncertain Significance
|
471642 |
rs781835780 |
GRCh37: 8:144996784-144996784 GRCh38: 8:143922616-143922616 |
44 |
PLEC |
NM_201384.3(PLEC):c.13498G>A (p.Gly4500Ser) |
SNV |
Uncertain Significance
|
659257 |
rs567240737 |
GRCh37: 8:144990491-144990491 GRCh38: 8:143916323-143916323 |
45 |
PLEC |
NM_201384.3(PLEC):c.5863G>A (p.Ala1955Thr) |
SNV |
Uncertain Significance
|
597551 |
rs200374705 |
GRCh37: 8:144998234-144998234 GRCh38: 8:143924066-143924066 |
46 |
PLEC |
NM_201384.3(PLEC):c.11926G>A (p.Val3976Ile) |
SNV |
Uncertain Significance
|
471525 |
rs782422260 |
GRCh37: 8:144992063-144992063 GRCh38: 8:143917895-143917895 |
47 |
PLEC |
NM_201384.3(PLEC):c.6632G>A (p.Arg2211Gln) |
SNV |
Uncertain Significance
|
655482 |
rs782310253 |
GRCh37: 8:144997465-144997465 GRCh38: 8:143923297-143923297 |
48 |
PLEC |
NM_201384.3(PLEC):c.8371G>A (p.Ala2791Thr) |
SNV |
Uncertain Significance
|
471661 |
rs529109624 |
GRCh37: 8:144995618-144995618 GRCh38: 8:143921450-143921450 |
49 |
PLEC |
NM_201384.3(PLEC):c.7106A>C (p.Glu2369Ala) |
SNV |
Uncertain Significance
|
655574 |
rs565837184 |
GRCh37: 8:144996991-144996991 GRCh38: 8:143922823-143922823 |
50 |
PLEC |
NM_201384.3(PLEC):c.4640A>C (p.Glu1547Ala) |
SNV |
Uncertain Significance
|
655807 |
rs1554701799 |
GRCh37: 8:144999457-144999457 GRCh38: 8:143925289-143925289 |