1 |
TGFBR1 |
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) |
SNV |
Pathogenic
|
12524 |
rs111854391 |
GRCh37: 9:101900288-101900288 GRCh38: 9:99138006-99138006 |
2 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) |
SNV |
Pathogenic
|
12511 |
rs104893815 |
GRCh37: 3:30732970-30732970 GRCh38: 3:30691478-30691478 |
3 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) |
SNV |
Pathogenic
|
177704 |
rs727504292 |
GRCh37: 3:30713742-30713742 GRCh38: 3:30672250-30672250 |
4 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) |
SNV |
Pathogenic
|
492846 |
rs1554701911 |
GRCh37: 9:101907098-101907098 GRCh38: 9:99144816-99144816 |
5 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys) |
SNV |
Pathogenic
|
1687722 |
|
GRCh37: 3:30715643-30715643 GRCh38: 3:30674151-30674151 |
6 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) |
SNV |
Pathogenic
|
12519 |
rs104893819 |
GRCh37: 3:30729962-30729962 GRCh38: 3:30688470-30688470 |
7 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) |
SNV |
Pathogenic
|
12526 |
rs111426349 |
GRCh37: 9:101911534-101911534 GRCh38: 9:99149252-99149252 |
8 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) |
SNV |
Pathogenic
Pathogenic
|
12525 |
rs113605875 |
GRCh37: 9:101911535-101911535 GRCh38: 9:99149253-99149253 |
9 |
FBN1 |
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) |
SNV |
Pathogenic
|
16457 |
rs137854478 |
GRCh37: 15:48780430-48780430 GRCh38: 15:48488233-48488233 |
10 |
TGFBR1 |
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) |
MICROSAT |
Pathogenic
|
213896 |
rs863223829 |
GRCh37: 9:101900244-101900246 GRCh38: 9:99137962-99137964 |
11 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) |
SNV |
Pathogenic
|
12512 |
rs104893810 |
GRCh37: 3:30732969-30732969 GRCh38: 3:30691477-30691477 |
12 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) |
SNV |
Pathogenic
|
213934 |
rs863223852 |
GRCh37: 3:30729968-30729968 GRCh38: 3:30688476-30688476 |
13 |
TGFBR1 |
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) |
SNV |
Pathogenic/Likely Pathogenic
|
213882 |
rs760079636 |
GRCh37: 9:101904946-101904946 GRCh38: 9:99142664-99142664 |
14 |
TGFB2 |
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) |
SNV |
Likely Pathogenic
|
222832 |
rs869025531 |
GRCh37: 1:218578555-218578555 GRCh38: 1:218405213-218405213 |
15 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) |
SNV |
Likely Pathogenic
|
36860 |
rs193922660 |
GRCh37: 3:30713826-30713826 GRCh38: 3:30672334-30672334 |
16 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) |
SNV |
Likely Pathogenic
|
165398 |
rs727503476 |
GRCh37: 3:30732967-30732967 GRCh38: 3:30691475-30691475 |
17 |
TGFBR2 |
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) |
DEL |
Likely Pathogenic
|
477546 |
rs79375991 |
GRCh37: 3:30691872-30691872 GRCh38: 3:30650380-30650380 |
18 |
TGFBR1 |
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) |
SNV |
Likely Pathogenic
|
263773 |
rs886038919 |
GRCh37: 9:101900323-101900323 GRCh38: 9:99138041-99138041 |
19 |
TGFB2 |
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) |
SNV |
Likely Pathogenic
|
180536 |
rs730880221 |
GRCh37: 1:218607457-218607457 GRCh38: 1:218434115-218434115 |
20 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) |
SNV |
Likely Pathogenic
|
222839 |
rs869025537 |
GRCh37: 3:30713727-30713727 GRCh38: 3:30672235-30672235 |
21 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1524+1G>A |
SNV |
Likely Pathogenic
|
165395 |
rs727503475 |
GRCh37: 3:30730004-30730004 GRCh38: 3:30688512-30688512 |
22 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) |
SNV |
Likely Pathogenic
|
165399 |
rs727503477 |
GRCh37: 3:30732978-30732978 GRCh38: 3:30691486-30691486 |
23 |
TGFBR2 |
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) |
SNV |
Likely Pathogenic
|
213943 |
rs863223857 |
GRCh37: 3:30713577-30713577 GRCh38: 3:30672085-30672085 |
24 |
COL3A1 |
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) |
SNV |
Likely Pathogenic
|
101484 |
rs587779715 |
GRCh37: 2:189872815-189872815 GRCh38: 2:189008089-189008089 |
25 |
SMAD3 |
NM_005902.4(SMAD3):c.206+1G>C |
SNV |
Likely Pathogenic
|
667425 |
rs770098673 |
GRCh37: 15:67358699-67358699 GRCh38: 15:67066361-67066361 |
26 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) |
SNV |
Likely Pathogenic
|
12509 |
rs104893813 |
GRCh37: 3:30713738-30713738 GRCh38: 3:30672246-30672246 |
27 |
SMAD3 |
NM_005902.4(SMAD3):c.532+1G>C |
SNV |
Likely Pathogenic
|
1172860 |
|
GRCh37: 15:67457723-67457723 GRCh38: 15:67165385-67165385 |
28 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) |
SNV |
Likely Pathogenic
|
36866 |
rs193922664 |
GRCh37: 3:30732927-30732927 GRCh38: 3:30691435-30691435 |
29 |
TGFBR2 |
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) |
SNV |
Likely Pathogenic
|
36868 |
rs193922665 |
GRCh37: 3:30691808-30691808 GRCh38: 3:30650316-30650316 |
30 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) |
SNV |
Likely Pathogenic
|
44657 |
rs397516840 |
GRCh37: 3:30729974-30729974 GRCh38: 3:30688482-30688482 |
31 |
SMAD3 |
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) |
SNV |
Likely Pathogenic
|
155836 |
rs587782977 |
GRCh37: 15:67457390-67457390 GRCh38: 15:67165052-67165052 |
32 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) |
SNV |
Likely Pathogenic
|
155839 |
rs587782979 |
GRCh37: 3:30715724-30715724 GRCh38: 3:30674232-30674232 |
33 |
TGFBR2 |
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) |
SNV |
Likely Pathogenic
|
165391 |
rs727503472 |
GRCh37: 3:30713534-30713534 GRCh38: 3:30672042-30672042 |
34 |
SMAD3 |
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) |
SNV |
Likely Pathogenic
|
180525 |
rs730880215 |
GRCh37: 15:67473791-67473791 GRCh38: 15:67181453-67181453 |
35 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) |
SNV |
Likely Pathogenic
|
180539 |
rs730880223 |
GRCh37: 9:101911519-101911519 GRCh38: 9:99149237-99149237 |
36 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) |
SNV |
Likely Pathogenic
|
180540 |
rs730880224 |
GRCh37: 3:30715619-30715619 GRCh38: 3:30674127-30674127 |
37 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) |
SNV |
Likely Pathogenic
|
180541 |
rs727504421 |
GRCh37: 3:30732957-30732957 GRCh38: 3:30691465-30691465 |
38 |
TGFB2 |
NM_003238.6(TGFB2):c.370dup (p.Arg124fs) |
DUP |
Likely Pathogenic
|
222834 |
rs869025533 |
GRCh37: 1:218578533-218578534 GRCh38: 1:218405191-218405192 |
39 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
36859 |
rs35719192 |
GRCh37: 3:30713794-30713794 GRCh38: 3:30672302-30672302 |
40 |
TGFBR2 |
NM_003242.6(TGFBR2):c.696C>T (p.Ala232_Asn233=) |
SNV |
Uncertain Significance
|
344659 |
rs768508812 |
GRCh37: 3:30713371-30713371 GRCh38: 3:30671879-30671879 |
41 |
TGFBR2 |
NM_003242.5(TGFBR2):c.-344C>A |
SNV |
Uncertain Significance
|
344647 |
rs886058298 |
GRCh37: 3:30648032-30648032 GRCh38: 3:30606540-30606540 |
42 |
MYLK |
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met) |
SNV |
Uncertain Significance
|
180444 |
rs730880164 |
GRCh37: 3:123382955-123382955 GRCh38: 3:123664108-123664108 |
43 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) |
SNV |
Uncertain Significance
|
36862 |
rs35766612 |
GRCh37: 3:30713834-30713834 GRCh38: 3:30672342-30672342 |
44 |
TGFBR2 |
NM_003242.5(TGFBR2):c.-307C>T |
SNV |
Uncertain Significance
|
344648 |
rs749340193 |
GRCh37: 3:30648069-30648069 GRCh38: 3:30606577-30606577 |
45 |
TGFBR1 |
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) |
SNV |
Uncertain Significance
|
364100 |
rs886063223 |
GRCh37: 9:101900232-101900232 GRCh38: 9:99137950-99137950 |
46 |
SMAD3 |
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) |
SNV |
Uncertain Significance
|
240273 |
rs150994304 |
GRCh37: 15:67477177-67477177 GRCh38: 15:67184839-67184839 |
47 |
TGFBR1 |
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) |
SNV |
Uncertain Significance
|
364098 |
rs767785290 |
GRCh37: 9:101894926-101894926 GRCh38: 9:99132644-99132644 |
48 |
TGFBR2 |
NM_003242.6(TGFBR2):c.690G>A (p.Thr230_Cys231=) |
SNV |
Uncertain Significance
|
344658 |
rs201560560 |
GRCh37: 3:30713365-30713365 GRCh38: 3:30671873-30671873 |
49 |
SMAD3 |
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) |
SNV |
Uncertain Significance
|
198533 |
rs139616052 |
GRCh37: 15:67477078-67477078 GRCh38: 15:67184740-67184740 |
50 |
TGFBR2 |
NM_003242.5(TGFBR2):c.-371A>C |
SNV |
Uncertain Significance
|
344646 |
rs886058297 |
GRCh37: 3:30648005-30648005 GRCh38: 3:30606513-30606513 |