1 |
FBN1 |
NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) |
deletion |
Pathogenic |
625943 |
rs1566911957 |
15:48788401-48788411 |
15:48496204-48496214 |
2 |
FBN1 |
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) |
SNV |
Pathogenic |
36082 |
rs113871094 |
15:48758017-48758017 |
15:48465820-48465820 |
3 |
FBN1 |
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) |
SNV |
Pathogenic |
163480 |
rs727503057 |
15:48797303-48797303 |
15:48505106-48505106 |
4 |
FBN1 |
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) |
SNV |
Pathogenic |
180352 |
rs730880099 |
15:48802322-48802322 |
15:48510125-48510125 |
5 |
FBN1 |
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) |
SNV |
Pathogenic |
265401 |
rs140583 |
15:48787416-48787416 |
15:48495219-48495219 |
6 |
FBN1 |
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) |
SNV |
Pathogenic/Likely pathogenic |
264272 |
rs111984349 |
15:48707956-48707956 |
15:48415759-48415759 |
7 |
FBN1 |
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) |
SNV |
Pathogenic/Likely pathogenic |
163462 |
rs727503054 |
15:48712949-48712949 |
15:48420752-48420752 |
8 |
FBN1 |
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) |
SNV |
Pathogenic/Likely pathogenic |
200001 |
rs794728195 |
15:48787352-48787352 |
15:48495155-48495155 |
9 |
FBN1 |
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) |
SNV |
Pathogenic/Likely pathogenic |
200191 |
rs794728334 |
15:48729266-48729266 |
15:48437069-48437069 |
10 |
FBN1 |
NM_000138.4(FBN1):c.4460-8G>A |
SNV |
Pathogenic/Likely pathogenic |
36075 |
rs193922204 |
15:48760739-48760739 |
15:48468542-48468542 |
11 |
FBN1 |
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) |
SNV |
Pathogenic/Likely pathogenic |
36078 |
rs111401431 |
15:48760294-48760294 |
15:48468097-48468097 |
12 |
FBN1 |
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) |
SNV |
Pathogenic/Likely pathogenic |
36107 |
rs193922228 |
15:48722933-48722933 |
15:48430736-48430736 |
13 |
FBN1 |
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) |
SNV |
Pathogenic/Likely pathogenic |
39667 |
rs397514558 |
15:48782210-48782210 |
15:48490013-48490013 |
14 |
FBN1 |
NM_000138.5(FBN1):c.1468+5G>A |
SNV |
Pathogenic/Likely pathogenic |
42284 |
rs397515757 |
15:48807579-48807579 |
15:48515382-48515382 |
15 |
FBN1 |
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) |
SNV |
Pathogenic/Likely pathogenic |
439708 |
rs113543334 |
15:48725141-48725141 |
15:48432944-48432944 |
16 |
FBN1 |
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) |
SNV |
Pathogenic/Likely pathogenic |
457162 |
rs1555400373 |
15:48807590-48807590 |
15:48515393-48515393 |
17 |
FBN1 |
NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) |
SNV |
Pathogenic/Likely pathogenic |
523334 |
rs1555397413 |
15:48762902-48762902 |
15:48470705-48470705 |
18 |
FBN1 |
NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) |
SNV |
Pathogenic/Likely pathogenic |
16437 |
rs137854464 |
15:48717680-48717680 |
15:48425483-48425483 |
19 |
FBN1 |
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) |
SNV |
Pathogenic/Likely pathogenic |
16461 |
rs137854480 |
15:48829826-48829826 |
15:48537629-48537629 |
20 |
FBN1 |
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) |
SNV |
Pathogenic/Likely pathogenic |
36042 |
rs193922185 |
15:48797234-48797234 |
15:48505037-48505037 |
21 |
FBN1 |
NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) |
SNV |
Likely pathogenic |
626100 |
rs71467648 |
15:48730095-48730095 |
15:48437898-48437898 |
22 |
FBN1 |
NM_000138.4(FBN1):c.5546-1G>A |
SNV |
Likely pathogenic |
626102 |
rs1566899590 |
15:48741091-48741091 |
15:48448894-48448894 |
23 |
FBN1 |
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) |
duplication |
Likely pathogenic |
828001 |
|
15:48902952-48902953 |
15:48610755-48610756 |
24 |
FBN1 |
NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) |
SNV |
Likely pathogenic |
495590 |
rs397515791 |
15:48779559-48779559 |
15:48487362-48487362 |
25 |
FBN1 |
NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) |
SNV |
Likely pathogenic |
549204 |
rs1555397718 |
15:48766763-48766763 |
15:48474566-48474566 |
26 |
FBN1 |
NM_000138.5(FBN1):c.*2045G>A |
SNV |
Conflicting interpretations of pathogenicity |
884619 |
|
15:48701142-48701142 |
15:48408945-48408945 |
27 |
FBN1 |
NM_000138.4(FBN1):c.7820-4G>A |
SNV |
Conflicting interpretations of pathogenicity |
514647 |
rs750036723 |
15:48707968-48707968 |
15:48415771-48415771 |
28 |
FBN1 |
NM_000138.4(FBN1):c.5826C>A (p.Cys1942Ter) |
SNV |
Conflicting interpretations of pathogenicity |
547334 |
rs363806 |
15:48737664-48737664 |
15:48445467-48445467 |
29 |
FBN1 |
NM_000138.4(FBN1):c.4321G>A (p.Gly1441Arg) |
SNV |
Conflicting interpretations of pathogenicity |
495607 |
rs372118067 |
15:48764763-48764763 |
15:48472566-48472566 |
30 |
FBN1 |
NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser) |
SNV |
Conflicting interpretations of pathogenicity |
457262 |
rs756295016 |
15:48714203-48714203 |
15:48422006-48422006 |
31 |
FBN1 |
NM_000138.4(FBN1):c.2950G>A (p.Val984Ile) |
SNV |
Conflicting interpretations of pathogenicity |
457184 |
rs747713929 |
15:48782180-48782180 |
15:48489983-48489983 |
32 |
FBN1 |
NM_000138.4(FBN1):c.7560G>A (p.Thr2520=) |
SNV |
Conflicting interpretations of pathogenicity |
457263 |
rs760425899 |
15:48714159-48714159 |
15:48421962-48421962 |
33 |
FBN1 |
NM_000138.4(FBN1):c.4211-10C>T |
SNV |
Conflicting interpretations of pathogenicity |
457205 |
rs28730793 |
15:48764883-48764883 |
15:48472686-48472686 |
34 |
FBN1 |
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) |
SNV |
Conflicting interpretations of pathogenicity |
884752 |
|
15:48936876-48936876 |
15:48644679-48644679 |
35 |
FBN1 |
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) |
SNV |
Conflicting interpretations of pathogenicity |
885690 |
|
15:48936929-48936929 |
15:48644732-48644732 |
36 |
FBN1 |
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) |
SNV |
Conflicting interpretations of pathogenicity |
36060 |
rs112287730 |
15:48782174-48782174 |
15:48489977-48489977 |
37 |
FBN1 |
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) |
SNV |
Conflicting interpretations of pathogenicity |
16445 |
rs61746008 |
15:48704816-48704816 |
15:48412619-48412619 |
38 |
FBN1 |
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) |
SNV |
Conflicting interpretations of pathogenicity |
16451 |
rs137854475 |
15:48779352-48779352 |
15:48487155-48487155 |
39 |
FBN1 |
NM_000138.5(FBN1):c.3712+9G>T |
SNV |
Conflicting interpretations of pathogenicity |
887011 |
|
15:48777562-48777562 |
15:48485365-48485365 |
40 |
FBN1 |
NM_000138.5(FBN1):c.*779C>T |
SNV |
Conflicting interpretations of pathogenicity |
885096 |
|
15:48702408-48702408 |
15:48410211-48410211 |
41 |
FBN1 |
NM_000138.5(FBN1):c.*43A>T |
SNV |
Conflicting interpretations of pathogenicity |
888468 |
|
15:48703144-48703144 |
15:48410947-48410947 |
42 |
FBN1 |
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) |
SNV |
Conflicting interpretations of pathogenicity |
42298 |
rs140606 |
15:48789581-48789581 |
15:48497384-48497384 |
43 |
FBN1 |
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) |
SNV |
Conflicting interpretations of pathogenicity |
42320 |
rs140591 |
15:48782235-48782235 |
15:48490038-48490038 |
44 |
FBN1 |
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) |
SNV |
Conflicting interpretations of pathogenicity |
42355 |
rs201273753 |
15:48764814-48764814 |
15:48472617-48472617 |
45 |
FBN1 |
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) |
SNV |
Conflicting interpretations of pathogenicity |
42356 |
rs377338217 |
15:48764778-48764778 |
15:48472581-48472581 |
46 |
FBN1 |
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) |
SNV |
Conflicting interpretations of pathogenicity |
42370 |
rs148888513 |
15:48758053-48758053 |
15:48465856-48465856 |
47 |
FBN1 |
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) |
SNV |
Conflicting interpretations of pathogenicity |
42408 |
rs363824 |
15:48725121-48725121 |
15:48432924-48432924 |
48 |
FBN1 |
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) |
SNV |
Conflicting interpretations of pathogenicity |
36086 |
rs111671429 |
15:48888508-48888508 |
15:48596311-48596311 |
49 |
FBN1 |
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) |
SNV |
Conflicting interpretations of pathogenicity |
36104 |
rs112084407 |
15:48725102-48725102 |
15:48432905-48432905 |
50 |
FBN1 |
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) |
SNV |
Conflicting interpretations of pathogenicity |
36132 |
rs363847 |
15:48703301-48703301 |
15:48411104-48411104 |