1 |
FBN1 |
NM_000138.5(FBN1):c.8155_8156del (p.Lys2719fs) |
DEL |
Pathogenic
|
40243 |
rs398122831 |
GRCh37: 15:48704836-48704837 GRCh38: 15:48412639-48412640 |
2 |
FBN1 |
NM_000138.5(FBN1):c.8156_8175del (p.Lys2719fs) |
DEL |
Pathogenic
|
40244 |
rs398122832 |
GRCh37: 15:48704817-48704836 GRCh38: 15:48412620-48412639 |
3 |
FBN1 |
NM_000138.5(FBN1):c.8226+1G>T |
SNV |
Pathogenic
|
40245 |
rs398122833 |
GRCh37: 15:48704765-48704765 GRCh38: 15:48412568-48412568 |
4 |
FBN1 |
NM_000138.5(FBN1):c.8175_8182del (p.Arg2726fs) |
DEL |
Pathogenic
|
225628 |
rs876657410 |
GRCh37: 15:48704810-48704817 GRCh38: 15:48412613-48412620 |
5 |
LOC113939944, FBN1 |
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter) |
DUP |
Pathogenic
|
572222 |
rs1566918075 |
GRCh37: 15:48812992-48812993 GRCh38: 15:48520795-48520796 |
6 |
FBN1 |
NM_000138.5(FBN1):c.3083-2A>G |
SNV |
Pathogenic
|
931144 |
rs2043529474 |
GRCh37: 15:48780692-48780692 GRCh38: 15:48488495-48488495 |
7 |
FBN1 |
NM_000138.5(FBN1):c.526dup (p.Gln176fs) |
DUP |
Pathogenic
|
931484 |
rs2044514951 |
GRCh37: 15:48888491-48888492 GRCh38: 15:48596294-48596295 |
8 |
FBN1 |
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter) |
SNV |
Pathogenic
|
931858 |
rs2043683891 |
GRCh37: 15:48795986-48795986 GRCh38: 15:48503789-48503789 |
9 |
FBN1 |
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) |
SNV |
Pathogenic
|
200022 |
rs794728208 |
GRCh37: 15:48777571-48777571 GRCh38: 15:48485374-48485374 |
10 |
FBN1 |
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) |
SNV |
Pathogenic
Likely Pathogenic
|
200001 |
rs794728195 |
GRCh37: 15:48787352-48787352 GRCh38: 15:48495155-48495155 |
11 |
FBN1 |
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) |
SNV |
Pathogenic
|
36042 |
rs193922185 |
GRCh37: 15:48797234-48797234 GRCh38: 15:48505037-48505037 |
12 |
FBN1 |
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) |
SNV |
Pathogenic
|
180352 |
rs730880099 |
GRCh37: 15:48802322-48802322 GRCh38: 15:48510125-48510125 |
13 |
FBN1 |
NM_000138.5(FBN1):c.8275_8291del (p.Glu2759fs) |
DEL |
Pathogenic
|
617941 |
rs1566888718 |
GRCh37: 15:48703512-48703528 GRCh38: 15:48411315-48411331 |
14 |
FBN1 |
NM_000138.5(FBN1):c.3222C>A (p.Cys1074Ter) |
SNV |
Pathogenic
|
930751 |
rs2043525934 |
GRCh37: 15:48780425-48780425 GRCh38: 15:48488228-48488228 |
15 |
FBN1 |
NM_000138.5(FBN1):c.3534dup (p.Gln1179fs) |
DUP |
Pathogenic
|
1691279 |
|
GRCh37: 15:48779326-48779327 GRCh38: 15:48487129-48487130 |
16 |
FBN1 |
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) |
SNV |
Pathogenic
|
36082 |
rs113871094 |
GRCh37: 15:48758017-48758017 GRCh38: 15:48465820-48465820 |
17 |
FBN1 |
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) |
SNV |
Pathogenic
|
36107 |
rs193922228 |
GRCh37: 15:48722933-48722933 GRCh38: 15:48430736-48430736 |
18 |
FBN1 |
NM_000138.5(FBN1):c.1468+5G>A |
SNV |
Pathogenic
|
42284 |
rs397515757 |
GRCh37: 15:48807579-48807579 GRCh38: 15:48515382-48515382 |
19 |
FBN1 |
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) |
SNV |
Pathogenic
|
36078 |
rs111401431 |
GRCh37: 15:48760294-48760294 GRCh38: 15:48468097-48468097 |
20 |
FBN1 |
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) |
SNV |
Pathogenic
|
16461 |
rs137854480 |
GRCh37: 15:48829826-48829826 GRCh38: 15:48537629-48537629 |
21 |
FBN1 |
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) |
SNV |
Pathogenic
|
264272 |
rs111984349 |
GRCh37: 15:48707956-48707956 GRCh38: 15:48415759-48415759 |
22 |
FBN1 |
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) |
SNV |
Pathogenic
|
265401 |
rs140583 |
GRCh37: 15:48787416-48787416 GRCh38: 15:48495219-48495219 |
23 |
FBN1 |
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) |
DEL |
Pathogenic
|
625943 |
rs1566911957 |
GRCh37: 15:48788401-48788411 GRCh38: 15:48496204-48496214 |
24 |
FBN1 |
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) |
SNV |
Pathogenic
|
163480 |
rs727503057 |
GRCh37: 15:48797303-48797303 GRCh38: 15:48505106-48505106 |
25 |
FBN1 |
NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer) |
DEL |
Pathogenic
|
439716 |
rs1555398170 |
GRCh37: 15:48773960-48773960 GRCh38: 15:48481763-48481763 |
26 |
FBN1 |
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) |
SNV |
Pathogenic
|
42401 |
rs111687884 |
GRCh37: 15:48829901-48829901 GRCh38: 15:48537704-48537704 |
27 |
LOC113939944, FBN1 |
NM_000138.5(FBN1):c.1147G>T (p.Glu383Ter) |
SNV |
Pathogenic
|
931435 |
rs794728325 |
GRCh37: 15:48812856-48812856 GRCh38: 15:48520659-48520659 |
28 |
FBN1 |
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) |
SNV |
Pathogenic
Likely Pathogenic
|
523334 |
rs1555397413 |
GRCh37: 15:48762902-48762902 GRCh38: 15:48470705-48470705 |
29 |
FBN1 |
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) |
DEL |
Pathogenic
|
1675081 |
|
GRCh37: 15:48737654-48737654 GRCh38: 15:48445457-48445457 |
30 |
FBN1 |
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) |
SNV |
Pathogenic/Likely Pathogenic
|
163462 |
rs727503054 |
GRCh37: 15:48712949-48712949 GRCh38: 15:48420752-48420752 |
31 |
FBN1 |
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe) |
SNV |
Likely Pathogenic
|
549204 |
rs1555397718 |
GRCh37: 15:48766763-48766763 GRCh38: 15:48474566-48474566 |
32 |
FBN1 |
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) |
SNV |
Likely Pathogenic
|
626100 |
rs71467648 |
GRCh37: 15:48730095-48730095 GRCh38: 15:48437898-48437898 |
33 |
FBN1 |
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) |
SNV |
Likely Pathogenic
|
439708 |
rs113543334 |
GRCh37: 15:48725141-48725141 GRCh38: 15:48432944-48432944 |
34 |
FBN1 |
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) |
SNV |
Likely Pathogenic
|
200191 |
rs794728334 |
GRCh37: 15:48729266-48729266 GRCh38: 15:48437069-48437069 |
35 |
FBN1 |
NM_000138.5(FBN1):c.5546-1G>A |
SNV |
Likely Pathogenic
|
626102 |
rs1566899590 |
GRCh37: 15:48741091-48741091 GRCh38: 15:48448894-48448894 |
36 |
FBN1 |
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) |
SNV |
Likely Pathogenic
|
457162 |
rs1555400373 |
GRCh37: 15:48807590-48807590 GRCh38: 15:48515393-48515393 |
37 |
FBN1 |
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr) |
SNV |
Likely Pathogenic
|
431935 |
rs1555399144 |
GRCh37: 15:48787328-48787328 GRCh38: 15:48495131-48495131 |
38 |
FBN1 |
NM_000138.5(FBN1):c.8226+1G>A |
SNV |
Likely Pathogenic
|
225629 |
rs398122833 |
GRCh37: 15:48704765-48704765 GRCh38: 15:48412568-48412568 |
39 |
FBN1 |
NM_000138.5(FBN1):c.4460-8G>A |
SNV |
Likely Pathogenic
|
36075 |
rs193922204 |
GRCh37: 15:48760739-48760739 GRCh38: 15:48468542-48468542 |
40 |
FBN1 |
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) |
SNV |
Likely Pathogenic
|
495590 |
rs397515791 |
GRCh37: 15:48779559-48779559 GRCh38: 15:48487362-48487362 |
41 |
FBN1 |
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) |
DUP |
Likely Pathogenic
|
828001 |
rs1597631624 |
GRCh37: 15:48902952-48902953 GRCh38: 15:48610755-48610756 |
42 |
FBN1 |
NM_000138.5(FBN1):c.3337+1dup |
DUP |
Likely Pathogenic
|
1527855 |
|
GRCh37: 15:48780308-48780309 GRCh38: 15:48488111-48488112 |
43 |
FBN1 |
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) |
SNV |
Likely Pathogenic
|
1675078 |
|
GRCh37: 15:48789556-48789556 GRCh38: 15:48497359-48497359 |
44 |
FBN1 |
NM_000138.5(FBN1):c.69T>C (p.His23=) |
SNV |
Uncertain Significance
|
1675079 |
|
GRCh37: 15:48936898-48936898 GRCh38: 15:48644701-48644701 |
45 |
FBN1 |
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) |
SNV |
Uncertain Significance
|
1675080 |
|
GRCh37: 15:48779283-48779283 GRCh38: 15:48487086-48487086 |
46 |
FBN1 |
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) |
SNV |
Uncertain Significance
|
569969 |
rs1566911886 |
GRCh37: 15:48788297-48788297 GRCh38: 15:48496100-48496100 |
47 |
FBN1 |
NM_000138.5(FBN1):c.6164-5T>C |
SNV |
Uncertain Significance
|
1675082 |
|
GRCh37: 15:48730119-48730119 GRCh38: 15:48437922-48437922 |
48 |
FBN1 |
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) |
SNV |
Uncertain Significance
|
828000 |
rs1052480459 |
GRCh37: 15:48730034-48730034 GRCh38: 15:48437837-48437837 |
49 |
FBN1 |
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) |
SNV |
Uncertain Significance
|
629518 |
rs762659907 |
GRCh37: 15:48729575-48729575 GRCh38: 15:48437378-48437378 |
50 |
FBN1 |
NM_000138.5(FBN1):c.2418A>G (p.Glu806=) |
SNV |
Uncertain Significance
|
199996 |
rs794728191 |
GRCh37: 15:48788298-48788298 GRCh38: 15:48496101-48496101 |