1 |
LMOD3 |
NM_198271.5(LMOD3):c.476del (p.Gly159fs) |
DEL |
Pathogenic
|
475328 |
rs1426709672 |
GRCh37: 3:69169030-69169030 GRCh38: 3:69119879-69119879 |
2 |
LMOD3 |
NM_198271.5(LMOD3):c.102del (p.Glu34fs) |
DEL |
Pathogenic
|
942494 |
rs2092412254 |
GRCh37: 3:69171436-69171436 GRCh38: 3:69122285-69122285 |
3 |
LMOD3 |
NM_198271.5(LMOD3):c.1628G>T (p.Arg543Leu) |
SNV |
Pathogenic
|
692211 |
rs199655993 |
GRCh37: 3:69167878-69167878 GRCh38: 3:69118727-69118727 |
4 |
LMOD3 |
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter) |
SNV |
Pathogenic
|
162217 |
rs724159964 |
GRCh37: 3:69168305-69168305 GRCh38: 3:69119154-69119154 |
5 |
LMOD3 |
NM_198271.5(LMOD3):c.1069G>T (p.Glu357Ter) |
SNV |
Pathogenic
|
162219 |
rs724159965 |
GRCh37: 3:69168437-69168437 GRCh38: 3:69119286-69119286 |
6 |
LMOD3 |
NM_198271.5(LMOD3):c.362_366del (p.Glu121fs) |
MICROSAT |
Pathogenic
|
475319 |
rs1274699363 |
GRCh37: 3:69169140-69169144 GRCh38: 3:69119989-69119993 |
7 |
LMOD3 |
NM_198271.5(LMOD3):c.1342C>T (p.Gln448Ter) |
SNV |
Pathogenic
|
1323241 |
|
GRCh37: 3:69168164-69168164 GRCh38: 3:69119013-69119013 |
8 |
LMOD3 |
NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs) |
DEL |
Pathogenic
|
1323243 |
|
GRCh37: 3:69168483-69168486 GRCh38: 3:69119332-69119335 |
9 |
LMOD3 |
NM_198271.5(LMOD3):c.138dup (p.Ser47fs) |
DUP |
Pathogenic
|
162215 |
rs727502797 |
GRCh37: 3:69171399-69171400 GRCh38: 3:69122248-69122249 |
10 |
LMOD3 |
NM_198271.5(LMOD3):c.1192del (p.Arg398fs) |
DEL |
Pathogenic
|
1354391 |
|
GRCh37: 3:69168314-69168314 GRCh38: 3:69119163-69119163 |
11 |
LMOD3 |
NM_198271.5(LMOD3):c.1472dup (p.Arg492fs) |
DUP |
Pathogenic
|
1395938 |
|
GRCh37: 3:69168033-69168034 GRCh38: 3:69118882-69118883 |
12 |
LMOD3 |
NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer) |
DEL |
Pathogenic
|
1457468 |
|
GRCh37: 3:69171443-69171458 GRCh38: 3:69122292-69122307 |
13 |
LMOD3 |
NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter) |
SNV |
Pathogenic
|
1451345 |
|
GRCh37: 3:69168802-69168802 GRCh38: 3:69119651-69119651 |
14 |
LMOD3 |
NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer) |
DEL |
Pathogenic
|
1450617 |
|
GRCh37: 3:69171384-69171384 GRCh38: 3:69122233-69122233 |
15 |
LMOD3 |
NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter) |
SNV |
Pathogenic
|
1451618 |
|
GRCh37: 3:69168287-69168287 GRCh38: 3:69119136-69119136 |
16 |
LMOD3 |
NC_000003.11:g.(?_69158226)_(69171557_?)del |
DEL |
Pathogenic
|
475292 |
|
GRCh37: 3:69158226-69171557 GRCh38: |
17 |
LMOD3 |
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) |
DEL |
Pathogenic
|
817627 |
rs769824247 |
GRCh37: 3:69168773-69168783 GRCh38: 3:69119622-69119632 |
18 |
LMOD3 |
NM_198271.5(LMOD3):c.971del (p.Gly324fs) |
DEL |
Pathogenic
|
1417273 |
|
GRCh37: 3:69168535-69168535 GRCh38: 3:69119384-69119384 |
19 |
LMOD3 |
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) |
DEL |
Pathogenic
|
162218 |
rs727502799 |
GRCh37: 3:69168406-69168407 GRCh38: 3:69119255-69119256 |
20 |
LMOD3 |
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) |
SNV |
Pathogenic
|
374498 |
rs1057519128 |
GRCh37: 3:69167858-69167858 GRCh38: 3:69118707-69118707 |
21 |
LMOD3 |
NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg) |
SNV |
Pathogenic
|
374499 |
rs1057519129 |
GRCh37: 3:69168502-69168502 GRCh38: 3:69119351-69119351 |
22 |
LMOD3 |
NM_198271.5(LMOD3):c.366del (p.Lys122fs) |
DEL |
Likely Pathogenic
|
692210 |
rs1368453406 |
GRCh37: 3:69169140-69169140 GRCh38: 3:69119989-69119989 |
23 |
LMOD3 |
NM_198271.5(LMOD3):c.23C>G (p.Ser8Ter) |
SNV |
Likely Pathogenic
|
1027923 |
rs2092413018 |
GRCh37: 3:69171515-69171515 GRCh38: 3:69122364-69122364 |
24 |
LMOD3 |
NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
475333 |
rs9835034 |
GRCh37: 3:69168718-69168718 GRCh38: 3:69119567-69119567 |
25 |
LMOD3 |
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn) |
SNV |
Uncertain Significance
|
1032596 |
rs1469953832 |
GRCh37: 3:69171372-69171372 GRCh38: 3:69122221-69122221 |
26 |
LMOD3 |
NM_198271.5(LMOD3):c.110C>T (p.Ser37Leu) |
SNV |
Uncertain Significance
|
1365740 |
|
GRCh37: 3:69171428-69171428 GRCh38: 3:69122277-69122277 |
27 |
LMOD3 |
NM_198271.5(LMOD3):c.1189C>G (p.Gln397Glu) |
SNV |
Uncertain Significance
|
1351224 |
|
GRCh37: 3:69168317-69168317 GRCh38: 3:69119166-69119166 |
28 |
LMOD3 |
NM_198271.5(LMOD3):c.695C>T (p.Thr232Ile) |
SNV |
Uncertain Significance
|
1513933 |
|
GRCh37: 3:69168811-69168811 GRCh38: 3:69119660-69119660 |
29 |
LMOD3 |
NM_198271.5(LMOD3):c.1367A>T (p.Asn456Ile) |
SNV |
Uncertain Significance
|
1348178 |
|
GRCh37: 3:69168139-69168139 GRCh38: 3:69118988-69118988 |
30 |
LMOD3 |
NC_000003.11:g.(?_69158236)_(69171547_?)dup |
DUP |
Uncertain Significance
|
1000795 |
|
GRCh37: 3:69158236-69171547 GRCh38: |
31 |
LMOD3 |
NM_198271.5(LMOD3):c.295-5T>C |
SNV |
Uncertain Significance
|
1503043 |
|
GRCh37: 3:69169216-69169216 GRCh38: 3:69120065-69120065 |
32 |
LMOD3 |
NM_198271.5(LMOD3):c.392A>G (p.Lys131Arg) |
SNV |
Uncertain Significance
|
1512027 |
|
GRCh37: 3:69169114-69169114 GRCh38: 3:69119963-69119963 |
33 |
LMOD3 |
NM_198271.5(LMOD3):c.263A>T (p.Glu88Val) |
SNV |
Uncertain Significance
|
1516194 |
|
GRCh37: 3:69171275-69171275 GRCh38: 3:69122124-69122124 |
34 |
LMOD3 |
NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile) |
SNV |
Uncertain Significance
|
1470611 |
|
GRCh37: 3:69167966-69167966 GRCh38: 3:69118815-69118815 |
35 |
LMOD3 |
NM_198271.5(LMOD3):c.1167_1169del (p.Leu390del) |
DEL |
Uncertain Significance
|
1448337 |
|
GRCh37: 3:69168337-69168339 GRCh38: 3:69119186-69119188 |
36 |
LMOD3 |
NM_198271.5(LMOD3):c.1160C>T (p.Thr387Ile) |
SNV |
Uncertain Significance
|
1483932 |
|
GRCh37: 3:69168346-69168346 GRCh38: 3:69119195-69119195 |
37 |
LMOD3 |
NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly) |
SNV |
Uncertain Significance
|
1717611 |
|
GRCh37: 3:69171512-69171512 GRCh38: 3:69122361-69122361 |
38 |
LMOD3 |
NM_198271.5(LMOD3):c.1157T>C (p.Val386Ala) |
SNV |
Uncertain Significance
|
1385700 |
|
GRCh37: 3:69168349-69168349 GRCh38: 3:69119198-69119198 |
39 |
LMOD3 |
NM_198271.5(LMOD3):c.1294G>A (p.Glu432Lys) |
SNV |
Uncertain Significance
|
1398149 |
|
GRCh37: 3:69168212-69168212 GRCh38: 3:69119061-69119061 |
40 |
LMOD3 |
NM_198271.5(LMOD3):c.1061A>G (p.His354Arg) |
SNV |
Uncertain Significance
|
1408995 |
|
GRCh37: 3:69168445-69168445 GRCh38: 3:69119294-69119294 |
41 |
LMOD3 |
NM_198271.5(LMOD3):c.575C>T (p.Thr192Ile) |
SNV |
Uncertain Significance
|
1412605 |
|
GRCh37: 3:69168931-69168931 GRCh38: 3:69119780-69119780 |
42 |
LMOD3 |
NM_198271.5(LMOD3):c.1397G>A (p.Ser466Asn) |
SNV |
Uncertain Significance
|
1383716 |
|
GRCh37: 3:69168109-69168109 GRCh38: 3:69118958-69118958 |
43 |
LMOD3 |
NM_198271.5(LMOD3):c.1370C>T (p.Pro457Leu) |
SNV |
Uncertain Significance
|
1365715 |
|
GRCh37: 3:69168136-69168136 GRCh38: 3:69118985-69118985 |
44 |
LMOD3 |
NM_198271.5(LMOD3):c.385G>T (p.Ala129Ser) |
SNV |
Uncertain Significance
|
1415675 |
|
GRCh37: 3:69169121-69169121 GRCh38: 3:69119970-69119970 |
45 |
LMOD3 |
NM_198271.5(LMOD3):c.1673A>C (p.Glu558Ala) |
SNV |
Uncertain Significance
|
1406409 |
|
GRCh37: 3:69158256-69158256 GRCh38: 3:69109105-69109105 |
46 |
LMOD3 |
NM_198271.5(LMOD3):c.797T>C (p.Ile266Thr) |
SNV |
Uncertain Significance
|
1360810 |
|
GRCh37: 3:69168709-69168709 GRCh38: 3:69119558-69119558 |
47 |
LMOD3 |
NM_198271.5(LMOD3):c.76A>G (p.Asn26Asp) |
SNV |
Uncertain Significance
|
1357871 |
|
GRCh37: 3:69171462-69171462 GRCh38: 3:69122311-69122311 |
48 |
LMOD3 |
NM_198271.5(LMOD3):c.961T>C (p.Phe321Leu) |
SNV |
Uncertain Significance
|
1365795 |
|
GRCh37: 3:69168545-69168545 GRCh38: 3:69119394-69119394 |
49 |
LMOD3 |
NM_198271.5(LMOD3):c.406G>A (p.Gly136Ser) |
SNV |
Uncertain Significance
|
1366246 |
|
GRCh37: 3:69169100-69169100 GRCh38: 3:69119949-69119949 |
50 |
LMOD3 |
NM_198271.5(LMOD3):c.1256T>C (p.Met419Thr) |
SNV |
Uncertain Significance
|
1366029 |
|
GRCh37: 3:69168250-69168250 GRCh38: 3:69119099-69119099 |