1 |
FBN1
|
NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs61746008
|
GRCh37 |
Chromosome 15, 48704816: 48704816 |
2 |
FBN1
|
NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs61746008
|
GRCh38 |
Chromosome 15, 48412619: 48412619 |
3 |
FBN1
|
NM_000138.4(FBN1): c.3509G> A (p.Arg1170His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs137854475
|
GRCh37 |
Chromosome 15, 48779352: 48779352 |
4 |
FBN1
|
NM_000138.4(FBN1): c.3509G> A (p.Arg1170His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs137854475
|
GRCh38 |
Chromosome 15, 48487155: 48487155 |
5 |
FBN1
|
NM_000138.4(FBN1): c.1746C> T (p.Cys582=)
|
single nucleotide variant |
Benign/Likely benign |
rs112366266
|
GRCh37 |
Chromosome 15, 48800870: 48800870 |
6 |
FBN1
|
NM_000138.4(FBN1): c.1746C> T (p.Cys582=)
|
single nucleotide variant |
Benign/Likely benign |
rs112366266
|
GRCh38 |
Chromosome 15, 48508673: 48508673 |
7 |
FBN1
|
NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs112287730
|
GRCh37 |
Chromosome 15, 48782174: 48782174 |
8 |
FBN1
|
NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs112287730
|
GRCh38 |
Chromosome 15, 48489977: 48489977 |
9 |
FBN1
|
NM_000138.4(FBN1): c.3675G> A (p.Pro1225=)
|
single nucleotide variant |
Benign/Likely benign |
rs148147223
|
GRCh37 |
Chromosome 15, 48777608: 48777608 |
10 |
FBN1
|
NM_000138.4(FBN1): c.3675G> A (p.Pro1225=)
|
single nucleotide variant |
Benign/Likely benign |
rs148147223
|
GRCh38 |
Chromosome 15, 48485411: 48485411 |
11 |
FBN1
|
NM_000138.4(FBN1): c.3965-8T> C
|
single nucleotide variant |
Benign/Likely benign |
rs140637
|
GRCh37 |
Chromosome 15, 48766855: 48766855 |
12 |
FBN1
|
NM_000138.4(FBN1): c.3965-8T> C
|
single nucleotide variant |
Benign/Likely benign |
rs140637
|
GRCh38 |
Chromosome 15, 48474658: 48474658 |
13 |
FBN1
|
NM_000138.4(FBN1): c.4905C> G (p.Thr1635=)
|
single nucleotide variant |
Benign/Likely benign |
rs113115949
|
GRCh37 |
Chromosome 15, 48757802: 48757802 |
14 |
FBN1
|
NM_000138.4(FBN1): c.4905C> G (p.Thr1635=)
|
single nucleotide variant |
Benign/Likely benign |
rs113115949
|
GRCh38 |
Chromosome 15, 48465605: 48465605 |
15 |
FBN1
|
NM_000138.4(FBN1): c.510C> T (p.Tyr170=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs111671429
|
GRCh37 |
Chromosome 15, 48888508: 48888508 |
16 |
FBN1
|
NM_000138.4(FBN1): c.510C> T (p.Tyr170=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs111671429
|
GRCh38 |
Chromosome 15, 48596311: 48596311 |
17 |
FBN1
|
NM_000138.4(FBN1): c.6594C> T (p.Pro2198=)
|
single nucleotide variant |
Benign/Likely benign |
rs111844882
|
GRCh37 |
Chromosome 15, 48726813: 48726813 |
18 |
FBN1
|
NM_000138.4(FBN1): c.6594C> T (p.Pro2198=)
|
single nucleotide variant |
Benign/Likely benign |
rs111844882
|
GRCh38 |
Chromosome 15, 48434616: 48434616 |
19 |
FBN1
|
NM_000138.4(FBN1): c.6700G> A (p.Val2234Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs112084407
|
GRCh37 |
Chromosome 15, 48725102: 48725102 |
20 |
FBN1
|
NM_000138.4(FBN1): c.6700G> A (p.Val2234Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs112084407
|
GRCh38 |
Chromosome 15, 48432905: 48432905 |
21 |
FBN1
|
NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs363835
|
GRCh37 |
Chromosome 15, 48722907: 48722907 |
22 |
FBN1
|
NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs363835
|
GRCh38 |
Chromosome 15, 48430710: 48430710 |
23 |
FBN1
|
NM_000138.4(FBN1): c.8283A> T (p.Thr2761=)
|
single nucleotide variant |
Benign/Likely benign |
rs146120912
|
GRCh37 |
Chromosome 15, 48703520: 48703520 |
24 |
FBN1
|
NM_000138.4(FBN1): c.8283A> T (p.Thr2761=)
|
single nucleotide variant |
Benign/Likely benign |
rs146120912
|
GRCh38 |
Chromosome 15, 48411323: 48411323 |
25 |
FBN1
|
NM_000138.4(FBN1): c.8502T> C (p.Thr2834=)
|
single nucleotide variant |
Benign/Likely benign |
rs363847
|
GRCh37 |
Chromosome 15, 48703301: 48703301 |
26 |
FBN1
|
NM_000138.4(FBN1): c.8502T> C (p.Thr2834=)
|
single nucleotide variant |
Benign/Likely benign |
rs363847
|
GRCh38 |
Chromosome 15, 48411104: 48411104 |
27 |
FBN1
|
NM_000138.4(FBN1): c.986T> C (p.Ile329Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12324002
|
GRCh37 |
Chromosome 15, 48818329: 48818329 |
28 |
FBN1
|
NM_000138.4(FBN1): c.986T> C (p.Ile329Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12324002
|
GRCh38 |
Chromosome 15, 48526132: 48526132 |
29 |
FBN1
|
NM_000138.4(FBN1): c.156G> T (p.Ala52=)
|
single nucleotide variant |
Benign |
rs25398
|
GRCh37 |
Chromosome 15, 48936811: 48936811 |
30 |
FBN1
|
NM_000138.4(FBN1): c.156G> T (p.Ala52=)
|
single nucleotide variant |
Benign |
rs25398
|
GRCh38 |
Chromosome 15, 48644614: 48644614 |
31 |
FBN1
|
NM_000138.4(FBN1): c.1875T> C (p.Asn625=)
|
single nucleotide variant |
Benign |
rs25458
|
GRCh37 |
Chromosome 15, 48797307: 48797307 |
32 |
FBN1
|
NM_000138.4(FBN1): c.1875T> C (p.Asn625=)
|
single nucleotide variant |
Benign |
rs25458
|
GRCh38 |
Chromosome 15, 48505110: 48505110 |
33 |
FBN1
|
NM_000138.4(FBN1): c.2175T> C (p.Asn725=)
|
single nucleotide variant |
Benign/Likely benign |
rs140606
|
GRCh37 |
Chromosome 15, 48789581: 48789581 |
34 |
FBN1
|
NM_000138.4(FBN1): c.2175T> C (p.Asn725=)
|
single nucleotide variant |
Benign/Likely benign |
rs140606
|
GRCh38 |
Chromosome 15, 48497384: 48497384 |
35 |
FBN1
|
NM_000138.4(FBN1): c.2855-9C> T
|
single nucleotide variant |
Benign/Likely benign |
rs140590
|
GRCh37 |
Chromosome 15, 48782284: 48782284 |
36 |
FBN1
|
NM_000138.4(FBN1): c.2855-9C> T
|
single nucleotide variant |
Benign/Likely benign |
rs140590
|
GRCh38 |
Chromosome 15, 48490087: 48490087 |
37 |
FBN1
|
NM_000138.4(FBN1): c.2895G> A (p.Glu965=)
|
single nucleotide variant |
Benign/Likely benign |
rs140591
|
GRCh37 |
Chromosome 15, 48782235: 48782235 |
38 |
FBN1
|
NM_000138.4(FBN1): c.2895G> A (p.Glu965=)
|
single nucleotide variant |
Benign/Likely benign |
rs140591
|
GRCh38 |
Chromosome 15, 48490038: 48490038 |
39 |
FBN1
|
NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs2228241
|
GRCh37 |
Chromosome 15, 48779550: 48779550 |
40 |
FBN1
|
NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs2228241
|
GRCh38 |
Chromosome 15, 48487353: 48487353 |
41 |
FBN1
|
NM_000138.4(FBN1): c.3423G> A (p.Pro1141=)
|
single nucleotide variant |
Likely benign |
rs140396599
|
GRCh37 |
Chromosome 15, 48779549: 48779549 |
42 |
FBN1
|
NM_000138.4(FBN1): c.3423G> A (p.Pro1141=)
|
single nucleotide variant |
Likely benign |
rs140396599
|
GRCh38 |
Chromosome 15, 48487352: 48487352 |
43 |
FBN1
|
NM_000138.4(FBN1): c.3463+3A> G
|
single nucleotide variant |
Benign/Likely benign |
rs80344206
|
GRCh37 |
Chromosome 15, 48779506: 48779506 |
44 |
FBN1
|
NM_000138.4(FBN1): c.3463+3A> G
|
single nucleotide variant |
Benign/Likely benign |
rs80344206
|
GRCh38 |
Chromosome 15, 48487309: 48487309 |
45 |
FBN1
|
NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs183306990
|
GRCh37 |
Chromosome 15, 48760242: 48760242 |
46 |
FBN1
|
NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs183306990
|
GRCh38 |
Chromosome 15, 48468045: 48468045 |
47 |
FBN1
|
NM_000138.4(FBN1): c.5442C> T (p.Asn1814=)
|
single nucleotide variant |
Benign/Likely benign |
rs397515822
|
GRCh37 |
Chromosome 15, 48744862: 48744862 |
48 |
FBN1
|
NM_000138.4(FBN1): c.5442C> T (p.Asn1814=)
|
single nucleotide variant |
Benign/Likely benign |
rs397515822
|
GRCh38 |
Chromosome 15, 48452665: 48452665 |
49 |
FBN1
|
NM_000138.4(FBN1): c.5788+10C> A
|
single nucleotide variant |
Benign/Likely benign |
rs371560107
|
GRCh37 |
Chromosome 15, 48738893: 48738893 |
50 |
FBN1
|
NM_000138.4(FBN1): c.5788+10C> A
|
single nucleotide variant |
Benign/Likely benign |
rs371560107
|
GRCh38 |
Chromosome 15, 48446696: 48446696 |