1 |
FBN1 |
NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs) | ‎‎
deletion |
Likely pathogenic |
163474 |
rs727503056 |
15:48760164-48760207 |
15:48467967-48468010 |
2 |
FBN1 |
NM_000138.5(FBN1):c.247+10T>C | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
178035 |
rs367618012 |
15:48905197-48905197 |
15:48613000-48613000 |
3 |
FBN1 |
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
161244 |
rs146726731 |
15:48812976-48812976 |
15:48520779-48520779 |
4 |
FBN1 |
NM_000138.4(FBN1):c.5917+3A>G | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
199950 |
rs202158568 |
15:48737570-48737570 |
15:48445373-48445373 |
5 |
FBN1 |
NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
200041 |
rs767606368 |
15:48764870-48764870 |
15:48472673-48472673 |
6 |
FBN1 |
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
200027 |
rs200342067 |
15:48773926-48773926 |
15:48481729-48481729 |
7 |
FBN1 |
NM_000138.4(FBN1):c.3590-8T>C | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
137306 |
rs140600 |
15:48777701-48777701 |
15:48485504-48485504 |
8 |
FBN1 |
NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
161237 |
rs143677764 |
15:48707938-48707938 |
15:48415741-48415741 |
9 |
FBN1 |
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
42408 |
rs363824 |
15:48725121-48725121 |
15:48432924-48432924 |
10 |
FBN1 |
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
42334 |
rs2228241 |
15:48779550-48779550 |
15:48487353-48487353 |
11 |
FBN1 |
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
42335 |
rs140396599 |
15:48779549-48779549 |
15:48487352-48487352 |
12 |
FBN1 |
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
42439 |
rs145105768 |
15:48704921-48704921 |
15:48412724-48412724 |
13 |
LTBP2 |
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
126949 |
rs137854861 |
14:75018994-75018994 |
14:74552291-74552291 |
14 |
FBN1 |
NM_000138.4(FBN1):c.-176A>T | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
137300 |
rs560004254 |
15:48937142-48937142 |
15:48644945-48644945 |
15 |
FBN1 |
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
237106 |
rs187553035 |
15:48704843-48704843 |
15:48412646-48412646 |
16 |
FBN1 |
NM_000138.4(FBN1):c.3936C>T (p.Ser1312=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
237089 |
rs779913610 |
15:48773880-48773880 |
15:48481683-48481683 |
17 |
FBN1 |
NM_000138.4(FBN1):c.1884C>T (p.Cys628=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
237081 |
rs150421653 |
15:48797298-48797298 |
15:48505101-48505101 |
18 |
FBN1 |
NM_000138.4(FBN1):c.783T>C (p.Asn261=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
237105 |
rs113721547 |
15:48826356-48826356 |
15:48534159-48534159 |
19 |
FBN1 |
NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
199954 |
rs370096856 |
15:48704807-48704807 |
15:48412610-48412610 |
20 |
FBN1 |
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
199960 |
rs142888621 |
15:48818413-48818413 |
15:48526216-48526216 |
21 |
FBN1 |
NM_000138.5(FBN1):c.6314-15G>A | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
228686 |
rs200841830 |
15:48729599-48729599 |
15:48437402-48437402 |
22 |
FBN1 |
NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
255306 |
rs201361628 |
15:48726830-48726830 |
15:48434633-48434633 |
23 |
FBN1 |
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
263832 |
rs143007898 |
15:48703440-48703440 |
15:48411243-48411243 |
24 |
FBN1 |
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
263431 |
rs149697299 |
15:48719912-48719912 |
15:48427715-48427715 |
25 |
FBN1 |
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
263632 |
rs375996640 |
15:48780684-48780684 |
15:48488487-48488487 |
26 |
FBN1 |
NM_000138.4(FBN1):c.2094G>T (p.Pro698=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
264529 |
rs144775475 |
15:48796003-48796003 |
15:48503806-48503806 |
27 |
FBN1 |
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
281682 |
rs141925790 |
15:48756163-48756163 |
15:48463966-48463966 |
28 |
LTBP2 |
NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
314270 |
rs139030976 |
14:74969989-74969989 |
14:74503286-74503286 |
29 |
LTBP2 |
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
314271 |
rs143456909 |
14:74970271-74970271 |
14:74503568-74503568 |
30 |
LTBP2 |
NM_000428.3(LTBP2):c.3527-3C>A | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
314282 |
rs138194436 |
14:74975435-74975435 |
14:74508732-74508732 |
31 |
LTBP2 |
NM_000428.3(LTBP2):c.2789-9T>C | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
314293 |
rs368269193 |
14:74983653-74983653 |
14:74516950-74516950 |
32 |
LTBP2 |
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
314299 |
rs140719298 |
14:74989611-74989611 |
14:74522908-74522908 |
33 |
FBN1 |
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
16445 |
rs61746008 |
15:48704816-48704816 |
15:48412619-48412619 |
34 |
FBN1 |
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
16451 |
rs137854475 |
15:48779352-48779352 |
15:48487155-48487155 |
35 |
FBN1 |
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
36060 |
rs112287730 |
15:48782174-48782174 |
15:48489977-48489977 |
36 |
FBN1 |
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
36086 |
rs111671429 |
15:48888508-48888508 |
15:48596311-48596311 |
37 |
FBN1 |
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
36132 |
rs363847 |
15:48703301-48703301 |
15:48411104-48411104 |
38 |
FBN1 |
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
36133 |
rs12324002 |
15:48818329-48818329 |
15:48526132-48526132 |
39 |
FBN1 |
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
42298 |
rs140606 |
15:48789581-48789581 |
15:48497384-48497384 |
40 |
FBN1 |
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
42320 |
rs140591 |
15:48782235-48782235 |
15:48490038-48490038 |
41 |
FBN1 |
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
42355 |
rs201273753 |
15:48764814-48764814 |
15:48472617-48472617 |
42 |
FBN1 |
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
42356 |
rs377338217 |
15:48764778-48764778 |
15:48472581-48472581 |
43 |
FBN1 |
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
42367 |
rs183306990 |
15:48760242-48760242 |
15:48468045-48468045 |
44 |
FBN1 |
NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
457262 |
rs756295016 |
15:48714203-48714203 |
15:48422006-48422006 |
45 |
FBN1 |
NM_000138.4(FBN1):c.2950G>A (p.Val984Ile) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
457184 |
rs747713929 |
15:48782180-48782180 |
15:48489983-48489983 |
46 |
FBN1 |
NM_000138.4(FBN1):c.7560G>A (p.Thr2520=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
457263 |
rs760425899 |
15:48714159-48714159 |
15:48421962-48421962 |
47 |
FBN1 |
NM_000138.4(FBN1):c.4211-10C>T | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
457205 |
rs28730793 |
15:48764883-48764883 |
15:48472686-48472686 |
48 |
FBN1 |
NM_000138.4(FBN1):c.5826C>A (p.Cys1942Ter) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
547334 |
rs363806 |
15:48737664-48737664 |
15:48445467-48445467 |
49 |
FBN1 |
NM_000138.4(FBN1):c.4321G>A (p.Gly1441Arg) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
495607 |
rs372118067 |
15:48764763-48764763 |
15:48472566-48472566 |
50 |
FBN1 |
NM_000138.4(FBN1):c.7820-4G>A | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
514647 |
rs750036723 |
15:48707968-48707968 |
15:48415771-48415771 |