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Items: 1 to 100 of 307

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr15:48766831
GRCh38:
Chr15:48474634
FBN1E1327DProgeroid and marfanoid aspect-lipodystrophy syndromeUncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr15:48726838
GRCh38:
Chr15:48434641
FBN1C2190YEctopia lentis 1, isolated, autosomal dominant, Progeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome,
Marfan syndrome, Acromicric dysplasia, MASS syndrome,
Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2		Likely pathogenic
(Mar 30, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr15:48936800
GRCh38:
Chr15:48644603
FBN1Ectopia lentis 1, isolated, autosomal dominant, Progeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome,
Marfan syndrome, Acromicric dysplasia, MASS syndrome,
Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2		Uncertain significance
(Dec 30, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr15:48736729
GRCh38:
Chr15:48444532
FBN1Ectopia lentis 1, isolated, autosomal dominant, Progeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome,
Marfan syndrome, Acromicric dysplasia, MASS syndrome,
Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2		Uncertain significance
(Nov 3, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr15:48796133
GRCh38:
Chr15:48503936
FBN1T655IEctopia lentis 1, isolated, autosomal dominant, Progeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome,
Marfan syndrome, Acromicric dysplasia, MASS syndrome,
Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2		Uncertain significance
(Oct 18, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr15:48784759
GRCh38:
Chr15:48492562
FBN1P918fsMarfan syndrome, Ectopia lentis 1, isolated, autosomal dominant, MASS syndrome,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Geleophysic dysplasia 2, Stiff skin syndrome, not provided
Pathogenic
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr15:48779326-48779327
GRCh38:
Chr15:48487129-48487130
FBN1Q1179fsMarfan syndrome, Progeroid and marfanoid aspect-lipodystrophy syndromePathogenic
(Mar 4, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr15:48762884
GRCh38:
Chr15:48470687
FBN1R1469Lnot provided, Marfan syndrome, Acromicric dysplasia,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome 2, dominant,
MASS syndrome, Stiff skin syndrome, Geleophysic dysplasia 2
Uncertain significance
(Nov 19, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr15:48902952
GRCh38:
Chr15:48610755
FBN1I107Lnot provided, Marfan syndrome, Acromicric dysplasia,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome 2, dominant,
MASS syndrome, Stiff skin syndrome, Geleophysic dysplasia 2,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection ...see more		Uncertain significance
(Jun 1, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr15:48730119
GRCh38:
Chr15:48437922
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome,
Acromicric dysplasia, Progeroid and marfanoid aspect-lipodystrophy syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome 2, dominant, MASS syndrome, Stiff skin syndrome,
Geleophysic dysplasia 2		Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr15:48737654
GRCh38:
Chr15:48445457
FBN1Q1946fsMarfan syndrome, Acromicric dysplasia, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome 2, dominant, MASS syndrome,
Stiff skin syndrome, Geleophysic dysplasia 2		Pathogenic
(Feb 16, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr15:48779283
GRCh38:
Chr15:48487086
FBN1L1193PMarfan syndrome, Acromicric dysplasia, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome 2, dominant, MASS syndrome,
Stiff skin syndrome, Geleophysic dysplasia 2		Uncertain significance
(May 17, 2021)		criteria provided, single submitter
13.
GRCh37:
Chr15:48936898
GRCh38:
Chr15:48644701
FBN1, LOC130057019Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant,
Acromicric dysplasia, Geleophysic dysplasia 2, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Conflicting interpretations of pathogenicity
(Apr 25, 2022)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr15:48789556
GRCh38:
Chr15:48497359
FBN1C734RMarfan syndrome, Acromicric dysplasia, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome 2, dominant, MASS syndrome,
Stiff skin syndrome, Geleophysic dysplasia 2		Likely pathogenic
(Jul 30, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr15:48936791
GRCh38:
Chr15:48644594
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant,
Geleophysic dysplasia 2, Stiff skin syndrome, Acromicric dysplasia,
Progeroid and marfanoid aspect-lipodystrophy syndrome		Likely benign
(Oct 10, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr15:48780308-48780309
GRCh38:
Chr15:48488111-48488112
FBN1Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant,
Acromicric dysplasia, Geleophysic dysplasia 2		Likely pathogenic
(Nov 3, 2021)		criteria provided, single submitter
17.
GRCh37:
Chr15:48766532
GRCh38:
Chr15:48474335
FBN1H1377LEctopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Marfan syndrome,
MASS syndrome, Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr15:48738938
GRCh38:
Chr15:48446741
FBN1H1918REctopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Marfan syndrome,
MASS syndrome, Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection ...see more		Uncertain significance
(Nov 15, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:48725162
GRCh38:
Chr15:48432965
FBN1P2214AMarfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant,
Acromicric dysplasia, Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Stiff skin syndrome		Uncertain significance
(Sep 15, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr15:48738974
GRCh38:
Chr15:48446777
FBN1R1906QMarfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant,
Acromicric dysplasia, Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Stiff skin syndrome		Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr15:48766541
GRCh38:
Chr15:48474344
FBN1C1374YEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, MASS syndrome,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Geleophysic dysplasia 2, Stiff skin syndrome, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Pathogenic
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr15:48741070
GRCh38:
Chr15:48448873
FBN1I1856VProgeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome, Stiff skin syndrome, Acromicric dysplasia,
MASS syndrome, Geleophysic dysplasia 2, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, not provided ...see more		Uncertain significance
(May 3, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr15:48760704
GRCh38:
Chr15:48468507
FBN1T1496MStiff skin syndrome, Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Geleophysic dysplasia 2, Marfan syndrome,
MASS syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr15:48736837
GRCh38:
Chr15:48444640
FBN1E1980QEctopia lentis 1, isolated, autosomal dominant, Acromicric dysplasia, Stiff skin syndrome,
Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Sep 14, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr15:48762886
GRCh38:
Chr15:48470689
FBN1F1468LEctopia lentis 1, isolated, autosomal dominant, MASS syndrome, Marfan syndrome,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Stiff skin syndrome,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr15:48707944
GRCh38:
Chr15:48415747
FBN1A2614PProgeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome, Marfan syndrome,
Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2, Ectopia lentis 1, isolated, autosomal dominant,
Acromicric dysplasia, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
Conflicting interpretations of pathogenicity
(Mar 24, 2022)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr15:48829949
GRCh38:
Chr15:48537752
FBN1L199FProgeroid and marfanoid aspect-lipodystrophy syndrome, Stiff skin syndrome, Marfan syndrome,
Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2, Ectopia lentis 1, isolated, autosomal dominant,
MASS syndrome, Acromicric dysplasia		Uncertain significancecriteria provided, single submitter
28.
GRCh37:
Chr15:48760170
GRCh38:
Chr15:48467973
FBN1G1571DProgeroid and marfanoid aspect-lipodystrophy syndromeUncertain significance
(Jun 26, 2020)		criteria provided, single submitter
29.
GRCh37:
Chr15:48888567
GRCh38:
Chr15:48596370
FBN1E151Qnot provided, Familial thoracic aortic aneurysm and aortic dissection, MASS syndrome,
Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant, Acromicric dysplasia,
Marfan syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant,
Geleophysic dysplasia 2		Uncertain significance
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr15:48726874
GRCh38:
Chr15:48434677
FBN1N2178SFamilial thoracic aortic aneurysm and aortic dissection, MASS syndrome, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Acromicric dysplasia, Marfan syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2
Uncertain significance
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:48729251
GRCh38:
Chr15:48437054
FBN1D2135HFamilial thoracic aortic aneurysm and aortic dissection, MASS syndrome, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Acromicric dysplasia, Marfan syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2
Uncertain significance
(Apr 26, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr15:48826340
GRCh38:
Chr15:48534143
FBN1G267RFamilial thoracic aortic aneurysm and aortic dissection, MASS syndrome, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Acromicric dysplasia, Marfan syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2
Uncertain significance
(Jul 21, 2021)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr15:48780568
GRCh38:
Chr15:48488371
FBN1T1069AMASS syndrome, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Acromicric dysplasia, Marfan syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr15:48787756
GRCh38:
Chr15:48495559
FBN1I817VMarfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided,
Marfan syndrome, MASS syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Stiff skin syndrome,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndromeFamilial thoracic aortic aneurysm and aortic dissection,
...see more		Uncertain significance
(Mar 6, 2023)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr15:48797297
GRCh38:
Chr15:48505100
FBN1V629IMarfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided,
Marfan syndrome, MASS syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Stiff skin syndrome,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome ...see more		Conflicting interpretations of pathogenicity
(Aug 24, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr15:48707944
GRCh38:
Chr15:48415747
FBN1A2614TMarfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, not specified,
Marfan syndrome, MASS syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Stiff skin syndrome,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndromeFamilial thoracic aortic aneurysm and aortic dissection,
...see more		Uncertain significance
(Dec 15, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr15:48902974
GRCh38:
Chr15:48610777
FBN1M99Inot provided, Weill-Marchesani syndrome 2, dominant, Ectopia lentis 1, isolated, autosomal dominant,
Acromicric dysplasia, Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome,
Stiff skin syndrome, Geleophysic dysplasia 2, MASS syndrome
Uncertain significance
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr15:48812972
GRCh38:
Chr15:48520775
FBN1, LOC113939944R344HWeill-Marchesani syndrome 2, dominant, Ectopia lentis 1, isolated, autosomal dominant, Acromicric dysplasia,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome, Stiff skin syndrome,
Geleophysic dysplasia 2, MASS syndrome, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Sep 10, 2021)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:48892332
GRCh38:
Chr15:48600135
FBN1Familial thoracic aortic aneurysm and aortic dissection, FBN1-related condition, Ectopia lentis 1, isolated, autosomal dominant,
MASS syndrome, Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome, Stiff skin syndrome,
Geleophysic dysplasia 2, Marfan syndromeFamilial thoracic aortic aneurysm and aortic dissection,
...see more		Uncertain significance
(Nov 7, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr15:48797242
GRCh38:
Chr15:48505045
FBN1L647PFamilial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome, MASS syndrome,
Stiff skin syndrome, Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant,
Acromicric dysplasia, Progeroid and marfanoid aspect-lipodystrophy syndrome ...see more		Conflicting interpretations of pathogenicity
(Jun 25, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr15:48797275
GRCh38:
Chr15:48505078
FBN1R636KEctopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia,
Marfan syndrome, MASS syndrome, Stiff skin syndrome,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Oct 16, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr15:48779338
GRCh38:
Chr15:48487141
FBN1I1175VEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, MASS syndrome,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Geleophysic dysplasia 2,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionnot provided,
...see more		Conflicting interpretations of pathogenicity
(Oct 8, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr15:48779613
GRCh38:
Chr15:48487416
FBN1D1120VEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, MASS syndrome,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Geleophysic dysplasia 2,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr15:48780393
GRCh38:
Chr15:48488196
FBN1Q1085REctopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Weill-Marchesani syndrome 2, dominant,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome, MASS syndrome,
Acromicric dysplasia, Geleophysic dysplasia 2, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome		Uncertain significance
(Oct 16, 2021)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr15:48773885
GRCh38:
Chr15:48481688
FBN1Y1311NEctopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, MASS syndrome,
Acromicric dysplasia, Weill-Marchesani syndrome 2, dominant, Geleophysic dysplasia 2,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, not providedMarfan syndrome,
...see more		Conflicting interpretations of pathogenicity
(Feb 2, 2022)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr15:48784777
GRCh38:
Chr15:48492580
FBN1D912GEctopia lentis 1, isolated, autosomal dominant, MASS syndrome, Geleophysic dysplasia 2,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome		Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr15:48733920
GRCh38:
Chr15:48441723
FBN1Q2054REctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr15:48734028
GRCh38:
Chr15:48441831
FBN1V2018AProgeroid and marfanoid aspect-lipodystrophy syndromeUncertain significance
(Feb 28, 2019)		criteria provided, single submitter
49.
GRCh37:
Chr15:48795986
GRCh38:
Chr15:48503789
FBN1S704*Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
Pathogenic
(Oct 28, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr15:48777629
GRCh38:
Chr15:48485432
FBN1S1218RProgeroid and marfanoid aspect-lipodystrophy syndromeUncertain significance
(Sep 9, 2019)		criteria provided, single submitter
51.
GRCh37:
Chr15:48888491-48888492
GRCh38:
Chr15:48596294-48596295
FBN1Q176fsProgeroid and marfanoid aspect-lipodystrophy syndromePathogenic
(Jan 1, 2016)		criteria provided, single submitter
52.
GRCh37:
Chr15:48812856
GRCh38:
Chr15:48520659
FBN1, LOC113939944E383*Progeroid and marfanoid aspect-lipodystrophy syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Apr 1, 2021)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr15:48780692
GRCh38:
Chr15:48488495
FBN1Progeroid and marfanoid aspect-lipodystrophy syndromePathogenic
(May 20, 2019)		criteria provided, single submitter
54.
GRCh37:
Chr15:48780425
GRCh38:
Chr15:48488228
FBN1C1074*Progeroid and marfanoid aspect-lipodystrophy syndromePathogenic
(Jun 22, 2019)		criteria provided, single submitter
55.
GRCh37:
Chr15:48726848
GRCh38:
Chr15:48434651
FBN1G2187SMarfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided,
not specified, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Weill-Marchesani syndrome 2, dominant, Acromicric dysplasia, Marfan syndrome,
MASS syndrome, Geleophysic dysplasia 2Progeroid and marfanoid aspect-lipodystrophy syndrome,
...see more		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr15:48777691
GRCh38:
Chr15:48485494
FBN1I1198VEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection ...see more		Uncertain significance
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:48741033
GRCh38:
Chr15:48448836
FBN1T1868IEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection ...see more		Uncertain significance
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr15:48757813
GRCh38:
Chr15:48465616
FBN1R1632CEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr15:48744855
GRCh38:
Chr15:48452658
FBN1V1817MEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Aug 18, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr15:48760164
GRCh38:
Chr15:48467967
FBN1P1573LEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection ...see more		Uncertain significance
(Jul 2, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr15:48712976
GRCh38:
Chr15:48420779
FBN1R2576HEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Sep 12, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr15:48766475
GRCh38:
Chr15:48474278
FBN1T1396IEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection ...see more		Uncertain significance
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr15:48726847
GRCh38:
Chr15:48434650
FBN1G2187DWeill-Marchesani syndrome 2, dominant, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Marfan syndrome, MASS syndrome, Acromicric dysplasia,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, not providedFamilial thoracic aortic aneurysm and aortic dissection,
...see more		Uncertain significance
(Feb 3, 2023)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:48766472
GRCh38:
Chr15:48474275
FBN1G1397VWeill-Marchesani syndrome 2, dominant, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Marfan syndrome, MASS syndrome, Acromicric dysplasia,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, not specifiedFamilial thoracic aortic aneurysm and aortic dissection,
...see more		Conflicting interpretations of pathogenicity
(Jan 23, 2023)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr15:48800869
GRCh38:
Chr15:48508672
FBN1L583FEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection ...see more		Conflicting interpretations of pathogenicity
(Sep 18, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr15:48766500
GRCh38:
Chr15:48474303
FBN1R1388CMarfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Oct 11, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr15:48805772
GRCh38:
Chr15:48513575
FBN1S521NEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Sep 16, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:48782272
GRCh38:
Chr15:48490075
FBN1I953TEctopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, MASS syndrome,
Geleophysic dysplasia 2, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Oct 9, 2021)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr15:48773947
GRCh38:
Chr15:48481750
FBN1I1290TGeleophysic dysplasia 2, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Nov 15, 2021)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr15:48755417
GRCh38:
Chr15:48463220
FBN1Y1696HGeleophysic dysplasia 2, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection ...see more		Conflicting interpretations of pathogenicity
(Jul 14, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr15:48826333
GRCh38:
Chr15:48534136
FBN1F269Snot provided, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant,
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndromeFamilial thoracic aortic aneurysm and aortic dissection,
...see more		Uncertain significance
(Oct 15, 2021)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr15:48789548
GRCh38:
Chr15:48497351
FBN1N736KGeleophysic dysplasia 2, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Dec 13, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr15:48737614
GRCh38:
Chr15:48445417
FBN1N1959SFamilial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Geleophysic dysplasia 2,
MASS syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection ...see more		Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr15:48725077
GRCh38:
Chr15:48432880
FBN1R2242HFamilial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant
Uncertain significance
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr15:48782104
GRCh38:
Chr15:48489907
FBN1P1009LFamilial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Geleophysic dysplasia 2,
MASS syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection ...see more		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr15:48892419
GRCh38:
Chr15:48600222
FBN1N120IFamilial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant,
not provided		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr15:48738980
GRCh38:
Chr15:48446783
FBN1T1904IFamilial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Geleophysic dysplasia 2,
MASS syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection ...see more		Uncertain significance
(May 30, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr15:48744840
GRCh38:
Chr15:48452643
FBN1A1822TFamilial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant,
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome ...see more		Uncertain significance
(Oct 29, 2021)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr15:48764756
GRCh38:
Chr15:48472559
FBN1, LOC126862124A1443VGeleophysic dysplasia 2, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Aug 3, 2021)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr15:48788372
GRCh38:
Chr15:48496175
FBN1R782GFamilial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Geleophysic dysplasia 2,
MASS syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Weill-Marchesani syndrome 2, dominant, Familial thoracic aortic aneurysm and aortic dissection ...see more		Uncertain significance
(Dec 13, 2021)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr15:48714264
GRCh38:
Chr15:48422067
FBN1D2485EMASS syndrome, Weill-Marchesani syndrome 2, dominant, Marfan syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Acromicric dysplasia,
Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissectionnot provided,
not specified, ...see more		Uncertain significance
(Jan 19, 2023)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr15:48758016
GRCh38:
Chr15:48465819
FBN1R1596QFamilial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant
Uncertain significance
(Sep 15, 2021)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr15:48748944
GRCh38:
Chr15:48456747
FBN1R1771QFamilial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Geleophysic dysplasia 2, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant ...see more		Uncertain significance
(May 11, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr15:48737714
GRCh38:
Chr15:48445517
FBN1Progeroid and marfanoid aspect-lipodystrophy syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Conflicting interpretations of pathogenicity
(Apr 30, 2021)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr15:48805805
GRCh38:
Chr15:48513608
FBN1S510LFamilial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome,
not provided, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndromeWeill-Marchesani syndrome 2, dominant,
...see more		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr15:48766510
GRCh38:
Chr15:48474313
FBN1M1384IFamilial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome,
Geleophysic dysplasia 2, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant ...see more		Conflicting interpretations of pathogenicity
(Jul 5, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr15:48719779
GRCh38:
Chr15:48427582
FBN1M2397VFBN1-related condition, Acromicric dysplasia, Weill-Marchesani syndrome 2, dominant,
Marfan syndrome, MASS syndrome, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionFamilial thoracic aortic aneurysm and aortic dissection,
...see more		Uncertain significance
(Aug 24, 2023)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr15:48703402
GRCh38:
Chr15:48411205
FBN1D2801HFamilial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant
Uncertain significance
(Sep 6, 2021)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr15:48787376
GRCh38:
Chr15:48495179
FBN1Q874Rnot specified, Familial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2,
MASS syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Weill-Marchesani syndrome 2, dominant		Uncertain significance
(Aug 2, 2021)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr15:48703266
GRCh38:
Chr15:48411069
FBN1E2846Gnot provided, Familial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2,
MASS syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Weill-Marchesani syndrome 2, dominant		Uncertain significance
(Jul 21, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr15:48829905
GRCh38:
Chr15:48537708
FBN1Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome,
Geleophysic dysplasia 2, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant ...see more		Likely benign
(Jan 16, 2023)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr15:48764790
GRCh38:
Chr15:48472593
FBN1, LOC126862124D1432NFamilial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant
Uncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr15:48766499
GRCh38:
Chr15:48474302
FBN1R1388LFamilial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Geleophysic dysplasia 2,
MASS syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Weill-Marchesani syndrome 2, dominant		Uncertain significance
(Feb 2, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr15:48736812
GRCh38:
Chr15:48444615
FBN1T1988IFamilial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome,
Geleophysic dysplasia 2, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant ...see more		Conflicting interpretations of pathogenicity
(Aug 30, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr15:48826361
GRCh38:
Chr15:48534164
FBN1G260Rnot provided, Familial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2,
MASS syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome,
Weill-Marchesani syndrome 2, dominant		Uncertain significance
(Jan 1, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr15:48719787
GRCh38:
Chr15:48427590
FBN1R2394QFamilial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Weill-Marchesani syndrome 2, dominant,
Marfan syndrome, MASS syndrome, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Geleophysic dysplasia 2, Progeroid and marfanoid aspect-lipodystrophy syndrome,
not specified, not provided ...see more		Conflicting interpretations of pathogenicity
(May 18, 2023)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr15:48737615
GRCh38:
Chr15:48445418
FBN1N1959Dnot specified, Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndromeWeill-Marchesani syndrome 2, dominant,
...see more		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr15:48826343
GRCh38:
Chr15:48534146
FBN1V266IFamilial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant
Uncertain significance
(Dec 21, 2021)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr15:48812885
GRCh38:
Chr15:48520688
FBN1, LOC113939944A373VFamilial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant
Uncertain significance
(Aug 9, 2021)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr15:48714172
GRCh38:
Chr15:48421975
FBN1T2516IFamilial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia 2, MASS syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome, Weill-Marchesani syndrome 2, dominant
Uncertain significance
(Jul 15, 2021)		criteria provided, multiple submitters, no conflicts
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