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Links from MedGen

Items: 1 to 100 of 301

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr9:137736650
GRCh38:
Chr9:134844804
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7ABenign
(Jun 14, 2016)		criteria provided, single submitter
2.
GRCh37:
Chr9:137736634
GRCh38:
Chr9:134844788
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
3.
GRCh37:
Chr9:137736578
GRCh38:
Chr9:134844732
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic typeLikely benign
(Jan 12, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr9:137736559
GRCh38:
Chr9:134844713
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
5.
GRCh37:
Chr9:137736544
GRCh38:
Chr9:134844698
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7ABenign
(Jun 14, 2016)		criteria provided, single submitter
6.
GRCh37:
Chr9:137736443
GRCh38:
Chr9:134844597
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
7.
GRCh37:
Chr9:137736401
GRCh38:
Chr9:134844555
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
8.
GRCh37:
Chr9:137736324
GRCh38:
Chr9:134844478
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
9.
GRCh37:
Chr9:137736239
GRCh38:
Chr9:134844393
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic typeBenign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr9:137736071
GRCh38:
Chr9:134844225
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic typeBenign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr9:137736036
GRCh38:
Chr9:134844190
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
12.
GRCh37:
Chr9:137735997
GRCh38:
Chr9:134844151
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
13.
GRCh37:
Chr9:137735997-137735998
GRCh38:
Chr9:134844151-134844152
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
14.
GRCh37:
Chr9:137735994
GRCh38:
Chr9:134844148
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
15.
GRCh37:
Chr9:137735956
GRCh38:
Chr9:134844110
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic typeBenign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr9:137735955
GRCh38:
Chr9:134844109
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7ALikely benign
(Jun 14, 2016)		criteria provided, single submitter
17.
GRCh37:
Chr9:137735937
GRCh38:
Chr9:134844091
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
18.
GRCh37:
Chr9:137735936
GRCh38:
Chr9:134844090
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
19.
GRCh37:
Chr9:137735883
GRCh38:
Chr9:134844037
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
20.
GRCh37:
Chr9:137735796-137735797
GRCh38:
Chr9:134843950-134843951
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7ALikely benign
(Jun 14, 2016)		criteria provided, single submitter
21.
GRCh37:
Chr9:137735791
GRCh38:
Chr9:134843945
COL5A1, LOC101448202Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome type 7ABenign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr9:137735786
GRCh38:
Chr9:134843940
LOC101448202, COL5A1Ehlers-Danlos syndrome type 7ALikely benign
(Jun 14, 2016)		criteria provided, single submitter
23.
GRCh37:
Chr9:137735711
GRCh38:
Chr9:134843865
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7ALikely benign
(Jun 14, 2016)		criteria provided, single submitter
24.
GRCh37:
Chr9:137735592
GRCh38:
Chr9:134843746
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7ALikely benign
(Jun 14, 2016)		criteria provided, single submitter
25.
GRCh37:
Chr9:137735492
GRCh38:
Chr9:134843646
LOC101448202, COL5A1Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic typeBenign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr9:137735409
GRCh38:
Chr9:134843563
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic typeBenign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr9:137735274
GRCh38:
Chr9:134843428
COL5A1, LOC101448202Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type 7ABenign
(Jul 16, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr9:137735233-137735236
GRCh38:
Chr9:134843387-134843390
LOC101448202, COL5A1Ehlers-Danlos syndrome type 7ABenign
(Jun 14, 2016)		criteria provided, single submitter
29.
GRCh37:
Chr9:137735193-137735194
GRCh38:
Chr9:134843347-134843348
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
30.
GRCh37:
Chr9:137735097
GRCh38:
Chr9:134843251
COL5A1, LOC101448202Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome type 7ABenign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr9:137735043
GRCh38:
Chr9:134843197
LOC101448202, COL5A1Ehlers-Danlos syndrome type 7ABenign
(Jun 14, 2016)		criteria provided, single submitter
32.
GRCh37:
Chr9:137735017-137735018
GRCh38:
Chr9:134843171-134843172
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7ABenign
(Jun 14, 2016)		criteria provided, single submitter
33.
GRCh37:
Chr9:137735016-137735017
GRCh38:
Chr9:134843170-134843171
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
34.
GRCh37:
Chr9:137735015-137735016
GRCh38:
Chr9:134843169-134843170
LOC101448202, COL5A1Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
35.
GRCh37:
Chr9:137735001-137735002
GRCh38:
Chr9:134843155-134843156
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
36.
GRCh37:
Chr9:137734882
GRCh38:
Chr9:134843036
COL5A1, LOC101448202Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, classic type, Fibromuscular dysplasia, multifocal,
Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A		Benign
(Jul 16, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr9:137734873
GRCh38:
Chr9:134843027
LOC101448202, COL5A1Ehlers-Danlos syndrome type 7ALikely benign
(Jun 14, 2016)		criteria provided, single submitter
38.
GRCh37:
Chr9:137734872-137734873
GRCh38:
Chr9:134843026-134843027
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
39.
GRCh37:
Chr9:137734849
GRCh38:
Chr9:134843003
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
40.
GRCh37:
Chr9:137734809
GRCh38:
Chr9:134842963
LOC101448202, COL5A1Ehlers-Danlos syndrome type 7ALikely benign
(Jun 14, 2016)		criteria provided, single submitter
41.
GRCh37:
Chr9:137734778
GRCh38:
Chr9:134842932
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7ALikely benign
(Jun 14, 2016)		criteria provided, single submitter
42.
GRCh37:
Chr9:137734757
GRCh38:
Chr9:134842911
COL5A1, LOC101448202Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome type 7ABenign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr9:137734745
GRCh38:
Chr9:134842899
LOC101448202, COL5A1Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
44.
GRCh37:
Chr9:137734738
GRCh38:
Chr9:134842892
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
45.
GRCh37:
Chr9:137734573
GRCh38:
Chr9:134842727
COL5A1, LOC101448202Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome type 7ABenign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr9:137734460
GRCh38:
Chr9:134842614
LOC101448202, COL5A1Ehlers-Danlos syndrome, classic type, 1, not provided, Fibromuscular dysplasia, multifocal,
Ehlers-Danlos syndrome type 7A		Benign/Likely benign
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr9:137734451
GRCh38:
Chr9:134842605
LOC101448202, COL5A1Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome type 7ABenign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr9:137734432
GRCh38:
Chr9:134842586
COL5A1, LOC101448202Fibromuscular dysplasia, multifocal, Ehlers-Danlos syndrome, classic type, not provided,
Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A		Benign/Likely benign
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr9:137734418
GRCh38:
Chr9:134842572
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7A, not providedLikely benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr9:137734416
GRCh38:
Chr9:134842570
LOC101448202, COL5A1Ehlers-Danlos syndrome, classic type, 1, Fibromuscular dysplasia, multifocal, not provided,
Ehlers-Danlos syndrome type 7A		Benign
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr9:137734384
GRCh38:
Chr9:134842538
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
52.
GRCh37:
Chr9:137734339
GRCh38:
Chr9:134842493
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7ALikely benign
(Jun 14, 2016)		criteria provided, single submitter
53.
GRCh37:
Chr9:137734322
GRCh38:
Chr9:134842476
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
54.
GRCh37:
Chr9:137734294
GRCh38:
Chr9:134842448
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic typeBenign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr9:137734232
GRCh38:
Chr9:134842386
LOC101448202, COL5A1not provided, Fibromuscular dysplasia, multifocal, Ehlers-Danlos syndrome, classic type, 1,
Ehlers-Danlos syndrome type 7A		Benign
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr9:137734217
GRCh38:
Chr9:134842371
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
57.
GRCh37:
Chr9:137734207
GRCh38:
Chr9:134842361
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7A, not provided, Ehlers-Danlos syndrome, classic type
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr9:137734204
GRCh38:
Chr9:134842358
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
59.
GRCh37:
Chr9:137734191
GRCh38:
Chr9:134842345
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic typeConflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr9:137734071
GRCh38:
Chr9:134842225
COL5A1, LOC101448202Familial thoracic aortic aneurysm and aortic dissection, not provided, Ehlers-Danlos syndrome, classic type, 1,
Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(May 7, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr9:137733991
GRCh38:
Chr9:134842145
COL5A1, LOC101448202Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
62.
GRCh37:
Chr9:137726973
GRCh38:
Chr9:134835127
COL5A1, LOC101448202R1765Cnot specified, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type, 1,
not provided, Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Sep 21, 2023)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr9:137726943
GRCh38:
Chr9:134835097
LOC101448202, COL5A1A1755TEhlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome, classic type, not provided,
Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Aug 26, 2021)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr9:137717625
GRCh38:
Chr9:134825779
COL5A1, LOC101448202Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7AConflicting interpretations of pathogenicity
(Nov 2, 2021)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr9:137716542
GRCh38:
Chr9:134824696
COL5A1, LOC101448202E1599QEhlers-Danlos syndrome, classic type, 1, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type,
Fibromuscular dysplasia, multifocal, not provided, Ehlers-Danlos syndrome type 7A
Benign/Likely benign
(Oct 1, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr9:137716538
GRCh38:
Chr9:134824692
COL5A1, LOC101448202Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A
Conflicting interpretations of pathogenicity
(Sep 1, 2023)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr9:137710726
GRCh38:
Chr9:134818880
COL5A1Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome, classic type, Familial thoracic aortic aneurysm and aortic dissection,
Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Apr 5, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr9:137710725
GRCh38:
Chr9:134818879
COL5A1P1457LEhlers-Danlos syndrome, not provided, Ehlers-Danlos syndrome, classic type,
Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Oct 7, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr9:137710546
GRCh38:
Chr9:134818700
COL5A1Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A
Conflicting interpretations of pathogenicity
(Sep 7, 2022)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr9:137709639
GRCh38:
Chr9:134817793
COL5A1A1398TFamilial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A
Uncertain significance
(Feb 15, 2023)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr9:137706675
GRCh38:
Chr9:134814829
COL5A1E1313DEhlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type, 1,
Ehlers-Danlos syndrome, classic type, not provided, Ehlers-Danlos syndrome type 7A
Conflicting interpretations of pathogenicity
(Oct 15, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr9:137705897
GRCh38:
Chr9:134814051
COL5A1Ehlers-Danlos syndrome, classic type, 1, Fibromuscular dysplasia, multifocal, Ehlers-Danlos syndrome, classic type,
not specified, Ehlers-Danlos syndrome type 7A		Benign/Likely benign
(Sep 16, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr9:137705873
GRCh38:
Chr9:134814027
COL5A1Ehlers-Danlos syndrome, classic type, 1, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome type 7A
Conflicting interpretations of pathogenicity
(Jul 12, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr9:137703382
GRCh38:
Chr9:134811536
COL5A1Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome type 7A
Conflicting interpretations of pathogenicity
(Apr 6, 2022)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr9:137703229
GRCh38:
Chr9:134811383
COL5A1not specified, Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, classic type, 1,
Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr9:137703220
GRCh38:
Chr9:134811374
COL5A1Ehlers-Danlos syndrome type 7A, not provided, Familial thoracic aortic aneurysm and aortic dissection
Conflicting interpretations of pathogenicity
(Jan 18, 2023)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr9:137697033
GRCh38:
Chr9:134805187
COL5A1not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A
Conflicting interpretations of pathogenicity
(Aug 24, 2023)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr9:137694838
GRCh38:
Chr9:134802992
COL5A1not provided, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type, 1,
Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Dec 11, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr9:137676905
GRCh38:
Chr9:134785059
COL5A1N852SEhlers-Danlos syndrome, classic type, 1, not provided, Ehlers-Danlos syndrome, classic type,
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr9:137664695
GRCh38:
Chr9:134772849
COL5A1not specified, Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, classic type, 1,
Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Jul 18, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr9:137658894
GRCh38:
Chr9:134767048
COL5A1A728TFamilial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type, not provided,
Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Aug 20, 2022)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr9:137653824
GRCh38:
Chr9:134761978
COL5A1R663SEhlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
83.
GRCh37:
Chr9:137648613
GRCh38:
Chr9:134756767
COL5A1Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
84.
GRCh37:
Chr9:137645710
GRCh38:
Chr9:134753864
COL5A1Ehlers-Danlos syndrome, classic type, 1, Familial thoracic aortic aneurysm and aortic dissection, not provided,
Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr9:137623512-137623513
GRCh38:
Chr9:134731666-134731667
COL5A1Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A
Uncertain significance
(Oct 21, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr9:137623447
GRCh38:
Chr9:134731601
COL5A1T424AEhlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic type, not provided
Conflicting interpretations of pathogenicity
(Sep 19, 2019)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr9:137620579
GRCh38:
Chr9:134728733
COL5A1E284KEhlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome, not provided,
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic type,
not specified		Conflicting interpretations of pathogenicity
(Oct 1, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr9:137620507
GRCh38:
Chr9:134728661
COL5A1Ehlers-Danlos syndrome, classic type, 1, not provided, Ehlers-Danlos syndrome type 7A
Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr9:137619196
GRCh38:
Chr9:134727350
COL5A1A247Tnot provided, Ehlers-Danlos syndrome, classic type, 1, Familial thoracic aortic aneurysm and aortic dissection,
Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr9:137591908
GRCh38:
Chr9:134700062
COL5A1T144KEhlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic typeConflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr9:137591842
GRCh38:
Chr9:134699996
COL5A1E122GEhlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7AUncertain significance
(Oct 5, 2021)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr9:137534070
GRCh38:
Chr9:134642224
COL5A1L13FEhlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome, classic type, Familial thoracic aortic aneurysm and aortic dissection,
not provided, Ehlers-Danlos syndrome type 7A		Conflicting interpretations of pathogenicity
(Jul 5, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr9:137533924
GRCh38:
Chr9:134642078
COL5A1not provided, Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic type,
Fibromuscular dysplasia, multifocal, Ehlers-Danlos syndrome, classic type, 1		Benign/Likely benign
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr9:137533895
GRCh38:
Chr9:134642049
COL5A1Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
95.
GRCh37:
Chr9:137533787
GRCh38:
Chr9:134641941
COL5A1Ehlers-Danlos syndrome, classic type, 1, not provided, Ehlers-Danlos syndrome type 7A,
Fibromuscular dysplasia, multifocal		Benign
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr9:137533755-137533756
GRCh38:
Chr9:134641909-134641910
COL5A1Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
97.
GRCh37:
Chr9:137533747
GRCh38:
Chr9:134641901
COL5A1Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
98.
GRCh37:
Chr9:137533677
GRCh38:
Chr9:134641831
COL5A1Ehlers-Danlos syndrome type 7AUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
99.
GRCh37:
Chr9:137533670
GRCh38:
Chr9:134641824
COL5A1Ehlers-Danlos syndrome type 7A, Ehlers-Danlos syndrome, classic type, 1, Fibromuscular dysplasia, multifocal
Uncertain significance
(Feb 18, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr9:137533652
GRCh38:
Chr9:134641806
COL5A1Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 7A, Fibromuscular dysplasia, multifocal,
Ehlers-Danlos syndrome, classic type, not provided		Benign/Likely benign
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
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