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Links from MedGen

Items: 1 to 100 of 1694

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:189871071
GRCh38:
Chr2:189006345
COL3A1G1032SEhlers-Danlos syndrome, type 4Uncertain significance
(May 25, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr2:189850453
GRCh38:
Chr2:188985727
COL3A1G133fsEhlers-Danlos syndrome, type 4Likely pathogenic
(Jan 28, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr2:189862103
GRCh38:
Chr2:188997377
COL3A1Ehlers-Danlos syndrome, type 4Uncertain significance
(May 9, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr2:189856255
GRCh38:
Chr2:188991529
COL3A1M299VEhlers-Danlos syndrome, type 4Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr2:189839216-190044330
COL3A1, COL5A2Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome, classic type, 1Pathogenic
(Oct 7, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr2:189849903-189957166
COL3A1, COL5A2Ehlers-Danlos syndrome, type 4Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr2:189860841-189861232
COL3A1Ehlers-Danlos syndrome, type 4Pathogenic
(Aug 4, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr2:189839216-189839314
COL3A1Ehlers-Danlos syndrome, type 4Pathogenic
(Oct 5, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr2:189871705
GRCh38:
Chr2:189006979
COL3A1R1082*Ehlers-Danlos syndrome, type 4Pathogenic
(May 17, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:189861175
GRCh38:
Chr2:188996449
COL3A1R572*Ehlers-Danlos syndrome, type 4Pathogenic
(Jul 16, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:189862045
GRCh38:
Chr2:188997319
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Mar 27, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:189859258
GRCh38:
Chr2:188994532
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Oct 10, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:189859255
GRCh38:
Chr2:188994529
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Oct 8, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr2:189876344
GRCh38:
Chr2:189011618
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Oct 18, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr2:189851825
GRCh38:
Chr2:188987099
COL3A1G163VEhlers-Danlos syndrome, type 4Uncertain significance
(Dec 11, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr2:189875092
GRCh38:
Chr2:189010366
COL3A1Ehlers-Danlos syndrome, type 4Pathogenic
(Oct 28, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr2:189864626
GRCh38:
Chr2:188999900
COL3A1Ehlers-Danlos syndrome, type 4Uncertain significance
(Jun 28, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr2:189864092
GRCh38:
Chr2:188999366
COL3A1G702SEhlers-Danlos syndrome, type 4Pathogenic
(Oct 8, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr2:189862128
GRCh38:
Chr2:188997402
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Mar 25, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr2:189864591
GRCh38:
Chr2:188999865
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Mar 2, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr2:189867671
GRCh38:
Chr2:189002945
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Mar 18, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr2:189867776
GRCh38:
Chr2:189003050
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Apr 12, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr2:189864067
GRCh38:
Chr2:188999341
COL3A1Ehlers-Danlos syndrome, type 4Uncertain significance
(Jan 27, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr2:189856391
GRCh38:
Chr2:188991665
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Aug 6, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr2:189859456
GRCh38:
Chr2:188994730
COL3A1A452SEhlers-Danlos syndrome, type 4Uncertain significance
(Mar 11, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr2:189859002
GRCh38:
Chr2:188994276
COL3A1R413WEhlers-Danlos syndrome, type 4Uncertain significance
(Oct 20, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr2:189866313
GRCh38:
Chr2:189001587
COL3A1, LOC126806446P797SEhlers-Danlos syndrome, type 4Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr2:189867091
GRCh38:
Chr2:189002365
COL3A1, LOC126806446Ehlers-Danlos syndrome, type 4Likely benign
(Jul 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr2:189854186
GRCh38:
Chr2:188989460
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Aug 22, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr2:189873818
GRCh38:
Chr2:189009092
COL3A1D1232HEhlers-Danlos syndrome, type 4Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr2:189871734
GRCh38:
Chr2:189007008
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Feb 20, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:189864636
GRCh38:
Chr2:188999910
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Jun 19, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr2:189868527
GRCh38:
Chr2:189003801
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Aug 5, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr2:189864630
GRCh38:
Chr2:188999904
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Feb 25, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr2:189876495
GRCh38:
Chr2:189011769
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Oct 4, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr2:189859442
GRCh38:
Chr2:188994716
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Sep 27, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr2:189849913
GRCh38:
Chr2:188985187
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Oct 3, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr2:189854821
GRCh38:
Chr2:188990095
COL3A1Ehlers-Danlos syndrome, type 4Pathogenic
(Oct 28, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr2:189868975
GRCh38:
Chr2:189004249
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Jul 11, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr2:189869009
GRCh38:
Chr2:189004283
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Apr 26, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:189873743
GRCh38:
Chr2:189009017
COL3A1G1207REhlers-Danlos syndrome, type 4Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr2:189864606
GRCh38:
Chr2:188999880
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(May 4, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr2:189873853
GRCh38:
Chr2:189009127
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Feb 21, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr2:189867779
GRCh38:
Chr2:189003053
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Aug 9, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr2:189851852
GRCh38:
Chr2:188987126
COL3A1Y172CEhlers-Danlos syndrome, type 4Uncertain significance
(Mar 23, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr2:189859575
GRCh38:
Chr2:188994849
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Oct 26, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr2:189868791
GRCh38:
Chr2:189004065
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(May 30, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr2:189852799
GRCh38:
Chr2:188988073
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Jul 25, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr2:189839233
GRCh38:
Chr2:188974507
COL3A1Q6HEhlers-Danlos syndrome, type 4Uncertain significance
(Sep 20, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr2:189854163
GRCh38:
Chr2:188989437
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Jul 14, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:189855030
GRCh38:
Chr2:188990304
COL3A1Ehlers-Danlos syndrome, type 4Uncertain significance
(Mar 16, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr2:189853380
GRCh38:
Chr2:188988654
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Mar 10, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr2:189861877
GRCh38:
Chr2:188997151
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Jan 11, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr2:189861136
GRCh38:
Chr2:188996410
COL3A1E559KEhlers-Danlos syndrome, type 4Uncertain significance
(Dec 17, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr2:189861111
GRCh38:
Chr2:188996385
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Jun 19, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr2:189874967
GRCh38:
Chr2:189010241
COL3A1M1296TEhlers-Danlos syndrome, type 4Uncertain significance
(Sep 22, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr2:189856229
GRCh38:
Chr2:188991503
COL3A1P290LEhlers-Danlos syndrome, type 4Uncertain significance
(Jan 29, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr2:189872351
GRCh38:
Chr2:189007625
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(May 26, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:189858100
GRCh38:
Chr2:188993374
COL3A1P355HEhlers-Danlos syndrome, type 4Uncertain significance
(Aug 21, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr2:189859843
GRCh38:
Chr2:188995117
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Mar 9, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr2:189862488
GRCh38:
Chr2:188997762
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Jan 18, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr2:189874886
GRCh38:
Chr2:189010160
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(May 19, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr2:189873873
GRCh38:
Chr2:189009147
COL3A1S1250NEhlers-Danlos syndrome, type 4Uncertain significance
(Aug 30, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr2:189849901-189849904
GRCh38:
Chr2:188985175-188985178
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Sep 12, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr2:189874991
GRCh38:
Chr2:189010265
COL3A1S1304TEhlers-Danlos syndrome, type 4Uncertain significance
(Jun 1, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr2:189859035
GRCh38:
Chr2:188994309
COL3A1A424SEhlers-Danlos syndrome, type 4Uncertain significance
(Mar 11, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr2:189857625
GRCh38:
Chr2:188992899
COL3A1P337SEhlers-Danlos syndrome, type 4Uncertain significance
(Jan 15, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr2:189849942
GRCh38:
Chr2:188985216
COL3A1G101Dnot provided, Ehlers-Danlos syndrome, type 4Uncertain significance
(Jan 30, 2023)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:189864072
GRCh38:
Chr2:188999346
COL3A1R695KEhlers-Danlos syndrome, type 4Uncertain significance
(May 17, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr2:189864073
GRCh38:
Chr2:188999347
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Feb 8, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr2:189849572
GRCh38:
Chr2:188984846
COL3A1D56NEhlers-Danlos syndrome, type 4Uncertain significance
(Aug 30, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr2:189866138
GRCh38:
Chr2:189001412
COL3A1I767VEhlers-Danlos syndrome, type 4Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr2:189873821
GRCh38:
Chr2:189009095
COL3A1E1233KEhlers-Danlos syndrome, type 4Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr2:189870066
GRCh38:
Chr2:189005340
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Sep 27, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr2:189859318
GRCh38:
Chr2:188994592
COL3A1R449CFamilial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4Uncertain significance
(Mar 7, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:189852833
GRCh38:
Chr2:188988107
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(May 3, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr2:189859556
GRCh38:
Chr2:188994830
COL3A1R485KEhlers-Danlos syndrome, type 4Uncertain significance
(May 1, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr2:189863061
GRCh38:
Chr2:188998335
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Apr 29, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr2:189857678
GRCh38:
Chr2:188992952
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Apr 24, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr2:189854858
GRCh38:
Chr2:188990132
COL3A1G243REhlers-Danlos syndrome, type 4Likely pathogenic
(Apr 23, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr2:189870924
GRCh38:
Chr2:189006198
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Aug 6, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr2:189862062
GRCh38:
Chr2:188997336
COL3A1G606CEhlers-Danlos syndrome, type 4Likely pathogenic
(Apr 21, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr2:189855072-189855073
GRCh38:
Chr2:188990346-188990347
COL3A1Ehlers-Danlos syndrome, type 4Likely pathogenic
(Oct 5, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr2:189873764
GRCh38:
Chr2:189009038
COL3A1G1214SEhlers-Danlos syndrome, type 4Uncertain significance
(Oct 16, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr2:189855042
GRCh38:
Chr2:188990316
COL3A1G252SEhlers-Danlos syndrome, type 4Pathogenic
(Apr 2, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr2:189850392
GRCh38:
Chr2:188985666
COL3A1G112DEhlers-Danlos syndrome, type 4Uncertain significance
(Mar 31, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr2:189869046
GRCh38:
Chr2:189004320
COL3A1G963fsEhlers-Danlos syndrome, type 4Pathogenic
(Mar 28, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr2:189868847
GRCh38:
Chr2:189004121
COL3A1S934fsEhlers-Danlos syndrome, type 4Pathogenic
(Oct 13, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr2:189876397
GRCh38:
Chr2:189011671
COL3A1T1433IEhlers-Danlos syndrome, type 4Uncertain significance
(Mar 20, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr2:189862977-189862988
GRCh38:
Chr2:188998251-188998262
COL3A1Ehlers-Danlos syndrome, type 4Uncertain significance
(Mar 12, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr2:189850511
GRCh38:
Chr2:188985785
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Mar 8, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr2:189849556
GRCh38:
Chr2:188984830
COL3A1C50*Ehlers-Danlos syndrome, type 4Pathogenic
(Mar 25, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr2:189872673
GRCh38:
Chr2:189007947
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Feb 25, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr2:189855065
GRCh38:
Chr2:188990339
COL3A1F259LEhlers-Danlos syndrome, type 4Uncertain significance
(Feb 21, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr2:189870191
GRCh38:
Chr2:189005465
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Feb 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr2:189875091
GRCh38:
Chr2:189010365
COL3A1Q1337HEhlers-Danlos syndrome, type 4Uncertain significance
(Mar 12, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr2:189858823
GRCh38:
Chr2:188994097
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Feb 19, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr2:189874965
GRCh38:
Chr2:189010239
COL3A1Ehlers-Danlos syndrome, type 4Likely benign
(Jul 17, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr2:189872840
GRCh38:
Chr2:189008114
COL3A1R1166PEhlers-Danlos syndrome, type 4Uncertain significance
(Jan 28, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr2:189850504
GRCh38:
Chr2:188985778
COL3A1Ehlers-Danlos syndrome, type 4Uncertain significance
(Jan 26, 2022)
criteria provided, single submitter
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