U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 32

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:152770164
GRCh38:
ChrX:153504706
BGNW25*Familial aortopathyLikely pathogenic
(Mar 23, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr5:127648488-127664387
FBN2Familial aortopathyLikely pathogenic
(Dec 7, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr1:218610840
GRCh38:
Chr1:218437498
TGFB2not provided, Familial aortopathyLikely pathogenic
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr2:189856433-189856434
GRCh38:
Chr2:188991707-188991708
COL3A1P314fsEhlers-Danlos syndrome, type 4, Familial aortopathyPathogenic/Likely pathogenic
(Jan 21, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:189850505
GRCh38:
Chr2:188985779
COL3A1Familial aortopathyLikely pathogenic
(Oct 10, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr2:189858142
GRCh38:
Chr2:188993416
COL3A1G369VFamilial aortopathyLikely pathogenic
(Nov 13, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr16:15814136
GRCh38:
Chr16:15720279
MYH11, NDE1R1609*, R1616*Familial aortopathyLikely pathogenic
(Feb 20, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr15:67473674
GRCh38:
Chr15:67181336
SMAD3Q252*, Q208*, Q57*, Q147*not provided, Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection
Pathogenic/Likely pathogenic
(Aug 4, 2020)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr15:48773901
GRCh38:
Chr15:48481704
FBN1C1305*Familial aortopathyLikely pathogenic
(Jan 6, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr2:189907926
GRCh38:
Chr2:189043200
COL5A2Q1141PEhlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome, not provided,
Familial aortopathy
Conflicting interpretations of pathogenicity
(Aug 22, 2022)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr9:101900266
GRCh38:
Chr9:99137984
TGFBR1F234L, F157L, F238LFamilial thoracic aortic aneurysm and aortic dissection, Familial aortopathyPathogenic/Likely pathogenic
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:90701067
GRCh38:
Chr10:88941310
ACTA2R179C, R136C, R142Cnot provided, Multisystemic smooth muscle dysfunction syndrome, Familial aortopathy,
Aortic aneurysm, familial thoracic 6
Pathogenic
(Apr 5, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr9:101904946
GRCh38:
Chr9:99142664
TGFBR1G312S, G235S, G316Snot provided, Familial aortopathy, Loeys-Dietz syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
Pathogenic/Likely pathogenic
(Aug 14, 2023)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:218609452
GRCh38:
Chr1:218436110
TGFB2R299W, R327WTGFB2-related condition, Familial thoracic aortic aneurysm and aortic dissection, not provided,
Loeys-Dietz syndrome 4, Familial aortopathy
Pathogenic/Likely pathogenic
(Nov 9, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr15:67473648
GRCh38:
Chr15:67181310
SMAD3R243H, R199H, R138H, R48Hnot provided, Familial thoracic aortic aneurysm and aortic dissection, Familial aortopathy
Uncertain significance
(Sep 17, 2023)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr15:48800799
GRCh38:
Chr15:48508602
FBN1S606*Familial aortopathy, not providedPathogenic/Likely pathogenic
(Apr 1, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr10:90708572
GRCh38:
Chr10:88948815
ACTA2R39Hnot provided, Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 6
Pathogenic/Likely pathogenic
(Jun 9, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:189871080
GRCh38:
Chr2:189006354
COL3A1Ehlers-Danlos syndrome, type 4, Familial aortopathyLikely pathogenic
(Aug 9, 2021)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr16:15812159
GRCh38:
Chr16:15718302
NDE1, MYH11Familial aortopathyUncertain significance
(Aug 18, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr16:15812309
GRCh38:
Chr16:15718452
MYH11, NDE1Lissencephaly, Recessive, not specified, Familial aortopathy,
not provided, Lissencephaly 4, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4
Benign/Likely benign
(Nov 28, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:15813586
GRCh38:
Chr16:15719729
MYH11, NDE1Familial aortopathyUncertain significance
(Aug 18, 2011)
criteria provided, single submitter
22.
GRCh37:
Chr16:15814717
GRCh38:
Chr16:15720860
MYH11, NDE1not specified, not provided, Familial aortopathy,
Lissencephaly 4, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr16:15820747
GRCh38:
Chr16:15726890
MYH11not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4
Conflicting interpretations of pathogenicity
(May 1, 2023)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr16:15820917
GRCh38:
Chr16:15727060
MYH11Connective tissue disorder, not specified, not provided,
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6, Aortic aneurysm, familial thoracic 4
Benign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr16:15839103
GRCh38:
Chr16:15745246
MYH11Connective tissue disorder, not specified, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr16:15841773
GRCh38:
Chr16:15747916
MYH11Cardiovascular phenotype, not specified, not provided,
Familial thoracic aortic aneurysm and aortic dissection, Familial aortopathy, Aortic aneurysm, familial thoracic 4
Benign
(Nov 28, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:189854827
GRCh38:
Chr2:188990101
COL3A1Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection, Familial aortopathy,
Ehlers-Danlos syndrome, type 4
Likely benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:189864023
GRCh38:
Chr2:188999297
COL3A1A679TEhlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, not specified,
Ehlers-Danlos syndrome, not provided, Familial aortopathy,
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4
Benign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:189862043
GRCh38:
Chr2:188997317
COL3A1Ehlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, not specified,
not provided, Ehlers-Danlos syndrome, type 4
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:189861152
GRCh38:
Chr2:188996426
COL3A1G564AFamilial aortopathyLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
31.
GRCh37:
Chr2:189859073
GRCh38:
Chr2:188994347
COL3A1not specified, Familial aortopathy, Ehlers-Danlos syndrome, type 4
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr10:90701164
GRCh38:
Chr10:88941407
ACTA2not specified, Familial aortopathy, Aortic aneurysm, familial thoracic 6
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by
Choose Destination