1 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln) |
SNV |
Pathogenic
|
30944 |
rs387907064 |
GRCh37: 9:136402651-136402651 GRCh38: 9:133537529-133537529 |
2 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys) |
SNV |
Pathogenic
|
30945 |
rs387907065 |
GRCh37: 9:136406102-136406102 GRCh38: 9:133540980-133540980 |
3 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.234-2A>G |
SNV |
Pathogenic
|
427943 |
rs775621284 |
GRCh37: 9:136403469-136403469 GRCh38: 9:133538347-133538347 |
4 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter) |
SNV |
Pathogenic
|
697 |
rs113994125 |
GRCh37: 9:136435623-136435623 GRCh38: 9:133570501-133570501 |
5 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg) |
SNV |
Pathogenic
|
696 |
rs113994124 |
GRCh37: 9:136435468-136435468 GRCh38: 9:133570346-133570346 |
6 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) |
SNV |
Pathogenic
|
695 |
rs113994123 |
GRCh37: 9:136404923-136404923 GRCh38: 9:133539801-133539801 |
7 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu) |
SNV |
Pathogenic
|
693 |
rs113994121 |
GRCh37: 9:136405747-136405747 GRCh38: 9:133540625-133540625 |
8 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn) |
SNV |
Pathogenic
|
624558 |
rs761886575 |
GRCh37: 9:136405806-136405806 GRCh38: 9:133540684-133540684 |
9 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter) |
SNV |
Pathogenic
|
915302 |
rs953298656 |
GRCh37: 9:136405836-136405836 GRCh38: 9:133540714-133540714 |
10 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) |
SNV |
Pathogenic/Likely Pathogenic
|
694 |
rs113994122 |
GRCh37: 9:136404921-136404921 GRCh38: 9:133539799-133539799 |
11 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.2737+1G>T |
SNV |
Likely Pathogenic
|
1162207 |
|
GRCh37: 9:136439110-136439110 GRCh38: 9:133573988-133573988 |
12 |
FBN1 |
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) |
SNV |
Likely Pathogenic
|
430150 |
rs1131691804 |
GRCh37: 15:48755320-48755320 GRCh38: 15:48463123-48463123 |
13 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.337C>T (p.Arg113Cys) |
SNV |
Likely Pathogenic
|
1164089 |
|
GRCh37: 9:136404920-136404920 GRCh38: 9:133539798-133539798 |
14 |
FBN1 |
NM_000138.5(FBN1):c.723G>A (p.Thr241=) |
SNV |
Uncertain Significance
|
316389 |
rs757264206 |
GRCh37: 15:48829821-48829821 GRCh38: 15:48537624-48537624 |
15 |
FBN1 |
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) |
SNV |
Uncertain Significance
|
316390 |
rs886051251 |
GRCh37: 15:48829955-48829955 GRCh38: 15:48537758-48537758 |
16 |
FBN1 |
NM_000138.5(FBN1):c.*1398G>C |
SNV |
Uncertain Significance
|
316334 |
rs886051234 |
GRCh37: 15:48701789-48701789 GRCh38: 15:48409592-48409592 |
17 |
FBN1 |
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) |
SNV |
Uncertain Significance
|
316363 |
rs886051244 |
GRCh37: 15:48707773-48707773 GRCh38: 15:48415576-48415576 |
18 |
FBN1 |
NM_000138.5(FBN1):c.*2221A>G |
SNV |
Uncertain Significance
|
316309 |
rs886051226 |
GRCh37: 15:48700966-48700966 GRCh38: 15:48408769-48408769 |
19 |
FBN1 |
NM_000138.5(FBN1):c.4336+11G>A |
SNV |
Uncertain Significance
|
316374 |
rs886051249 |
GRCh37: 15:48764737-48764737 GRCh38: 15:48472540-48472540 |
20 |
FBN1 |
NM_000138.5(FBN1):c.-70C>A |
SNV |
Uncertain Significance
|
316394 |
rs886051253 |
GRCh37: 15:48937036-48937036 GRCh38: 15:48644839-48644839 |
21 |
FBN1 |
NM_000138.4(FBN1):c.-389_-388TC[1] |
MICROSAT |
Uncertain Significance
|
316400 |
rs886051258 |
GRCh37: 15:48937974-48937977 GRCh38: 15:48645777-48645780 |
22 |
FBN1 |
NM_000138.4(FBN1):c.-371T>C |
SNV |
Uncertain Significance
|
316399 |
rs886051257 |
GRCh37: 15:48937961-48937961 GRCh38: 15:48645764-48645764 |
23 |
FBN1 |
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) |
SNV |
Uncertain Significance
|
316384 |
rs377386372 |
GRCh37: 15:48802353-48802353 GRCh38: 15:48510156-48510156 |
24 |
FBN1 |
NM_000138.5(FBN1):c.*254C>T |
SNV |
Uncertain Significance
|
316357 |
rs886051243 |
GRCh37: 15:48702933-48702933 GRCh38: 15:48410736-48410736 |
25 |
FBN1 |
NM_000138.5(FBN1):c.*1706C>A |
SNV |
Uncertain Significance
|
316324 |
rs770825180 |
GRCh37: 15:48701481-48701481 GRCh38: 15:48409284-48409284 |
26 |
FBN1 |
NM_000138.4(FBN1):c.-319G>T |
SNV |
Uncertain Significance
|
316398 |
rs886051256 |
GRCh37: 15:48937909-48937909 GRCh38: 15:48645712-48645712 |
27 |
FBN1 |
NM_000138.5(FBN1):c.*2114T>A |
SNV |
Uncertain Significance
|
316312 |
rs886051227 |
GRCh37: 15:48701073-48701073 GRCh38: 15:48408876-48408876 |
28 |
FBN1 |
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) |
SNV |
Uncertain Significance
|
316366 |
rs886051245 |
GRCh37: 15:48722938-48722938 GRCh38: 15:48430741-48430741 |
29 |
FBN1 |
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) |
SNV |
Uncertain Significance
|
316369 |
rs756506237 |
GRCh37: 15:48733986-48733986 GRCh38: 15:48441789-48441789 |
30 |
FBN1 |
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) |
SNV |
Uncertain Significance
|
316373 |
rs886051248 |
GRCh37: 15:48748851-48748851 GRCh38: 15:48456654-48456654 |
31 |
FBN1 |
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) |
SNV |
Uncertain Significance
|
155792 |
rs587782945 |
GRCh37: 15:48764771-48764771 GRCh38: 15:48472574-48472574 |
32 |
FBN1 |
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile) |
SNV |
Uncertain Significance
|
316382 |
rs781698952 |
GRCh37: 15:48782227-48782227 GRCh38: 15:48490030-48490030 |
33 |
FBN1 |
NM_000138.5(FBN1):c.*2556G>A |
SNV |
Uncertain Significance
|
316300 |
rs886051221 |
GRCh37: 15:48700631-48700631 GRCh38: 15:48408434-48408434 |
34 |
FBN1 |
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) |
SNV |
Uncertain Significance
|
316393 |
rs886051252 |
GRCh37: 15:48905231-48905231 GRCh38: 15:48613034-48613034 |
35 |
FBN1 |
NM_000138.5(FBN1):c.-136G>C |
SNV |
Uncertain Significance
|
316397 |
rs879283668 |
GRCh37: 15:48937102-48937102 GRCh38: 15:48644905-48644905 |
36 |
FBN1 |
NM_000138.5(FBN1):c.*268G>C |
SNV |
Uncertain Significance
|
316356 |
rs886051242 |
GRCh37: 15:48702919-48702919 GRCh38: 15:48410722-48410722 |
37 |
FBN1 |
NM_000138.5(FBN1):c.*2638T>C |
SNV |
Uncertain Significance
|
316297 |
rs886051219 |
GRCh37: 15:48700549-48700549 GRCh38: 15:48408352-48408352 |
38 |
FBN1 |
NM_000138.5(FBN1):c.*2091G>A |
SNV |
Uncertain Significance
|
316313 |
rs575922741 |
GRCh37: 15:48701096-48701096 GRCh38: 15:48408899-48408899 |
39 |
FBN1 |
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) |
SNV |
Uncertain Significance
|
316387 |
rs886051250 |
GRCh37: 15:48808514-48808514 GRCh38: 15:48516317-48516317 |
40 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.318G>A (p.Pro106=) |
SNV |
Uncertain Significance
|
976603 |
rs191009072 |
GRCh37: 9:136404901-136404901 GRCh38: 9:133539779-133539779 |
41 |
FBN1 |
NM_000138.5(FBN1):c.*724A>C |
SNV |
Uncertain Significance
|
316352 |
rs886051239 |
GRCh37: 15:48702463-48702463 GRCh38: 15:48410266-48410266 |
42 |
FBN1 |
NM_000138.5(FBN1):c.*948G>T |
SNV |
Uncertain Significance
|
316347 |
rs749224599 |
GRCh37: 15:48702239-48702239 GRCh38: 15:48410042-48410042 |
43 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.*4C>T |
SNV |
Uncertain Significance
|
1319779 |
|
GRCh37: 9:136439990-136439990 GRCh38: 9:133574868-133574868 |
44 |
ADAMTSL2 |
NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr) |
SNV |
Uncertain Significance
|
365570 |
rs200378599 |
GRCh37: 9:136401845-136401845 GRCh38: 9:133536723-133536723 |
45 |
FBN1 |
NM_000138.5(FBN1):c.*1943G>T |
SNV |
Uncertain Significance
|
316321 |
rs886051229 |
GRCh37: 15:48701244-48701244 GRCh38: 15:48409047-48409047 |
46 |
FBN1 |
NM_000138.5(FBN1):c.-132A>C |
SNV |
Uncertain Significance
|
316396 |
rs886051255 |
GRCh37: 15:48937098-48937098 GRCh38: 15:48644901-48644901 |
47 |
FBN1 |
NM_000138.5(FBN1):c.*938G>T |
SNV |
Uncertain Significance
|
316348 |
rs886051238 |
GRCh37: 15:48702249-48702249 GRCh38: 15:48410052-48410052 |
48 |
FBN1 |
NM_000138.5(FBN1):c.5788+4C>A |
SNV |
Uncertain Significance
|
316370 |
rs577301285 |
GRCh37: 15:48738899-48738899 GRCh38: 15:48446702-48446702 |
49 |
FBN1 |
NM_000138.5(FBN1):c.*2260C>A |
SNV |
Uncertain Significance
|
316308 |
rs886051225 |
GRCh37: 15:48700927-48700927 GRCh38: 15:48408730-48408730 |
50 |
FBN1 |
NM_000138.5(FBN1):c.*1733A>G |
SNV |
Uncertain Significance
|
316322 |
rs886051230 |
GRCh37: 15:48701454-48701454 GRCh38: 15:48409257-48409257 |