1 |
SMAD4 |
NM_005359.6(SMAD4):c.1308+2T>C | ‎‎
SNV |
Pathogenic |
548563 |
rs1555686624 |
18:48593559-48593559 |
18:51067189-51067189 |
2 |
SMAD4 |
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) | ‎‎
duplication |
Pathogenic |
24811 |
rs377767334 |
18:48584513-48584514 |
18:51058143-51058144 |
3 |
SMAD4 |
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) | ‎‎
SNV |
Pathogenic |
24827 |
rs121912581 |
18:48591891-48591891 |
18:51065521-51065521 |
4 |
SMAD4 |
NM_005359.6(SMAD4):c.1055G>A (p.Gly352Glu) | ‎‎
SNV |
Pathogenic |
24828 |
rs377767345 |
18:48591892-48591892 |
18:51065522-51065522 |
5 |
SMAD4 |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) | ‎‎
SNV |
Pathogenic |
24832 |
rs377767347 |
18:48591919-48591919 |
18:51065549-51065549 |
6 |
SMAD4 |
NM_005359.6(SMAD4):c.1082G>T (p.Arg361Leu) | ‎‎
SNV |
Pathogenic |
24833 |
rs377767347 |
18:48591919-48591919 |
18:51065549-51065549 |
7 |
SMAD4 |
NM_005359.6(SMAD4):c.1088_1090del (p.Cys363del) | ‎‎
deletion |
Pathogenic |
24835 |
rs377767349 |
18:48591923-48591925 |
18:51065553-51065555 |
8 |
SMAD4 |
NM_005359.5(SMAD4):c.1102_1103delTC (p.Ser368Glnfs) | ‎‎
short repeat |
Pathogenic |
24837 |
rs377767351 |
18:48591936-48591937 |
18:51065566-51065567 |
9 |
SMAD4 |
NM_005359.6(SMAD4):c.1148T>A (p.Ile383Lys) | ‎‎
SNV |
Pathogenic |
24840 |
rs377767355 |
18:48593397-48593397 |
18:51067027-51067027 |
10 |
SMAD4 |
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) | ‎‎
SNV |
Pathogenic |
24850 |
rs377767360 |
18:48603032-48603032 |
18:51076662-51076662 |
11 |
SMAD4 |
NM_005359.6(SMAD4):c.1586_1587dup (p.His530fs) | ‎‎
duplication |
Pathogenic |
24869 |
rs1555687599 |
18:48604763-48604764 |
18:51078393-51078394 |
12 |
SMAD4 |
NM_005359.6(SMAD4):c.1594del (p.Ala532fs) | ‎‎
deletion |
Pathogenic |
24870 |
rs377767378 |
18:48604770-48604770 |
18:51078400-51078400 |
13 |
SMAD4 |
NM_005359.6(SMAD4):c.1596_1597delinsT (p.Leu533fs) | ‎‎
indel |
Pathogenic |
24871 |
rs377767379 |
18:48604774-48604775 |
18:51078404-51078405 |
14 |
SMAD4 |
NM_005359.6(SMAD4):c.1597del (p.Leu533fs) | ‎‎
deletion |
Pathogenic |
24872 |
rs377767380 |
18:48604773-48604773 |
18:51078403-51078403 |
15 |
SMAD4 |
NM_005359.6(SMAD4):c.1598T>G (p.Leu533Arg) | ‎‎
SNV |
Pathogenic |
24874 |
rs377767382 |
18:48604776-48604776 |
18:51078406-51078406 |
16 |
SMAD4 |
NM_005359.6(SMAD4):c.1600C>T (p.Gln534Ter) | ‎‎
SNV |
Pathogenic |
24875 |
rs377767383 |
18:48604778-48604778 |
18:51078408-51078408 |
17 |
SMAD4 |
NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro) | ‎‎
SNV |
Pathogenic |
24876 |
rs377767382 |
18:48604776-48604776 |
18:51078406-51078406 |
18 |
SMAD4 |
NM_005359.6(SMAD4):c.1612_1625del (p.Glu538fs) | ‎‎
deletion |
Pathogenic |
24878 |
rs377767385 |
18:48604788-48604801 |
18:51078418-51078431 |
19 |
SMAD4 |
NM_005359.6(SMAD4):c.1139+274del | ‎‎
deletion |
Pathogenic |
24879 |
rs483352871 |
18:48592247-48592247 |
18:51065877-51065877 |
20 |
SMAD4 |
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) | ‎‎
SNV |
Pathogenic |
30150 |
rs281875322 |
18:48604676-48604676 |
18:51078306-51078306 |
21 |
SMAD4 |
NM_005359.6(SMAD4):c.1447+1G>A | ‎‎
SNV |
Pathogenic |
38740 |
rs377767387 |
18:48603147-48603147 |
18:51076777-51076777 |
22 |
SMAD4 |
SMAD4, 1-BP INS | ‎‎
insertion |
Pathogenic |
8542 |
|
|
|
23 |
SMAD4 |
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) | ‎‎
SNV |
Pathogenic |
8543 |
rs80338963 |
18:48591918-48591918 |
18:51065548-51065548 |
24 |
SMAD4 |
SMAD4, 14-BP DEL, NT1612 | ‎‎
deletion |
Pathogenic |
8547 |
|
|
|
25 |
SMAD4 |
SMAD4, 2-BP DEL/1-BP INS, 1596CC/T | ‎‎
indel |
Pathogenic |
8548 |
|
|
|
26 |
SMAD4 |
NM_005359.6(SMAD4):c.302G>A (p.Trp101Ter) | ‎‎
SNV |
Pathogenic |
24798 |
rs377767323 |
18:48575108-48575108 |
18:51048738-51048738 |
27 |
SMAD4 |
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) | ‎‎
deletion |
Pathogenic |
142253 |
rs80338965 |
18:48593491-48593494 |
18:51067121-51067124 |
28 |
SMAD4 |
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
8545 |
rs121912580 |
18:48593406-48593406 |
18:51067036-51067036 |
29 |
SMAD4 |
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
484792 |
rs751154230 |
18:48575104-48575104 |
18:51048734-51048734 |
30 |
SMAD4 |
NM_005359.6(SMAD4):c.789C>T (p.Asn263=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
484804 |
rs763510526 |
18:48584711-48584711 |
18:51058341-51058341 |
31 |
SMAD4 |
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
182869 |
rs539739051 |
18:48584504-48584504 |
18:51058134-51058134 |
32 |
SMAD4 |
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
183733 |
rs372316981 |
18:48573436-48573436 |
18:51047066-51047066 |
33 |
SMAD4 |
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
183887 |
rs142292491 |
18:48573437-48573437 |
18:51047067-51047067 |
34 |
SMAD4 |
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
136074 |
rs199526820 |
18:48604831-48604831 |
18:51078461-51078461 |
35 |
SMAD4 |
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
240149 |
rs757211048 |
18:48575148-48575148 |
18:51048778-51048778 |
36 |
SMAD4 |
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
240146 |
rs756795016 |
18:48604822-48604822 |
18:51078452-51078452 |
37 |
SMAD4 |
NM_005359.6(SMAD4):c.667+3G>A | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
327111 |
rs757971589 |
18:48581366-48581366 |
18:51054996-51054996 |
38 |
SMAD4 |
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
41788 |
rs149755320 |
18:48604751-48604751 |
18:51078381-51078381 |
39 |
SMAD4 |
NM_005359.6(SMAD4):c.424+5G>A | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
127950 |
rs200772603 |
18:48575235-48575235 |
18:51048865-51048865 |
40 |
SMAD4 |
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
413437 |
rs549489716 |
18:48604810-48604810 |
18:51078440-51078440 |
41 |
SMAD4 |
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
460541 |
rs760840557 |
18:48604723-48604723 |
18:51078353-51078353 |
42 |
SMAD4 |
NM_005359.6(SMAD4):c.-128+12A>G | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
327107 |
rs886053891 |
18:48557005-48557005 |
18:51030635-51030635 |
43 |
SMAD4 |
NM_005359.6(SMAD4):c.249+10A>C | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
327110 |
rs752243771 |
18:48573675-48573675 |
18:51047305-51047305 |
44 |
SMAD4 |
NM_005359.6(SMAD4):c.*30A>C | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
327112 |
rs767288576 |
18:48604867-48604867 |
18:51078497-51078497 |
45 |
SMAD4 |
NM_005359.6(SMAD4):c.876G>A (p.Pro292=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
378973 |
rs753358186 |
18:48584798-48584798 |
18:51058428-51058428 |
46 |
SMAD4 |
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
379190 |
rs1057520520 |
18:48604670-48604670 |
18:51078300-51078300 |
47 |
SMAD4 |
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) | ‎‎
SNV |
Uncertain significance |
374977 |
rs1057519259 |
18:48581159-48581159 |
18:51054789-51054789 |
48 |
SMAD4 |
NM_005359.6(SMAD4):c.*5551A>G | ‎‎
SNV |
Uncertain significance |
327199 |
rs202140561 |
18:48610388-48610388 |
18:51084018-51084018 |
49 |
SMAD4 |
NM_005359.6(SMAD4):c.*4987T>C | ‎‎
SNV |
Uncertain significance |
327170 |
rs188228460 |
18:48609824-48609824 |
18:51083454-51083454 |
50 |
SMAD4 |
NM_005359.6(SMAD4):c.*5235C>G | ‎‎
SNV |
Uncertain significance |
327177 |
rs755051361 |
18:48610072-48610072 |
18:51083702-51083702 |