| - GRCh37:
- Chr2:189871071
- GRCh38:
- Chr2:189006345
| COL3A1 | G1032S | Ehlers-Danlos syndrome, type 4 | Uncertain significance (May 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189850453
- GRCh38:
- Chr2:188985727
| COL3A1 | G133fs | Ehlers-Danlos syndrome, type 4 | Likely pathogenic (Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189862103
- GRCh38:
- Chr2:188997377
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Uncertain significance (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189856255
- GRCh38:
- Chr2:188991529
| COL3A1 | M299V | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189839216-190044330
| COL3A1, COL5A2 | | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome, classic type, 1 | Pathogenic (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189849903-189957166
| COL3A1, COL5A2 | | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189860841-189861232
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Pathogenic (Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189839216-189839314
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Pathogenic (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189871705
- GRCh38:
- Chr2:189006979
| COL3A1 | R1082* | Ehlers-Danlos syndrome, type 4 | Pathogenic (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189861175
- GRCh38:
- Chr2:188996449
| COL3A1 | R572* | Ehlers-Danlos syndrome, type 4 | Pathogenic (Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189862045
- GRCh38:
- Chr2:188997319
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859258
- GRCh38:
- Chr2:188994532
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859255
- GRCh38:
- Chr2:188994529
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189876344
- GRCh38:
- Chr2:189011618
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189851825
- GRCh38:
- Chr2:188987099
| COL3A1 | G163V | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Dec 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189875092
- GRCh38:
- Chr2:189010366
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Pathogenic (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189864626
- GRCh38:
- Chr2:188999900
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189864092
- GRCh38:
- Chr2:188999366
| COL3A1 | G702S | Ehlers-Danlos syndrome, type 4 | Pathogenic (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189862128
- GRCh38:
- Chr2:188997402
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189864591
- GRCh38:
- Chr2:188999865
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189867671
- GRCh38:
- Chr2:189002945
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189867776
- GRCh38:
- Chr2:189003050
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189864067
- GRCh38:
- Chr2:188999341
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189856391
- GRCh38:
- Chr2:188991665
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859456
- GRCh38:
- Chr2:188994730
| COL3A1 | A452S | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859002
- GRCh38:
- Chr2:188994276
| COL3A1 | R413W | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189866313
- GRCh38:
- Chr2:189001587
| COL3A1, LOC126806446 | P797S | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189867091
- GRCh38:
- Chr2:189002365
| COL3A1, LOC126806446 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189854186
- GRCh38:
- Chr2:188989460
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189873818
- GRCh38:
- Chr2:189009092
| COL3A1 | D1232H | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189871734
- GRCh38:
- Chr2:189007008
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189864636
- GRCh38:
- Chr2:188999910
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189868527
- GRCh38:
- Chr2:189003801
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189864630
- GRCh38:
- Chr2:188999904
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189876495
- GRCh38:
- Chr2:189011769
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859442
- GRCh38:
- Chr2:188994716
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189849913
- GRCh38:
- Chr2:188985187
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189854821
- GRCh38:
- Chr2:188990095
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Pathogenic (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189868975
- GRCh38:
- Chr2:189004249
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189869009
- GRCh38:
- Chr2:189004283
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189873743
- GRCh38:
- Chr2:189009017
| COL3A1 | G1207R | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189864606
- GRCh38:
- Chr2:188999880
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189873853
- GRCh38:
- Chr2:189009127
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189867779
- GRCh38:
- Chr2:189003053
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189851852
- GRCh38:
- Chr2:188987126
| COL3A1 | Y172C | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859575
- GRCh38:
- Chr2:188994849
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189868791
- GRCh38:
- Chr2:189004065
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189852799
- GRCh38:
- Chr2:188988073
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189839233
- GRCh38:
- Chr2:188974507
| COL3A1 | Q6H | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189854163
- GRCh38:
- Chr2:188989437
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189855030
- GRCh38:
- Chr2:188990304
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189853380
- GRCh38:
- Chr2:188988654
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189861877
- GRCh38:
- Chr2:188997151
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189861136
- GRCh38:
- Chr2:188996410
| COL3A1 | E559K | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189861111
- GRCh38:
- Chr2:188996385
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189874967
- GRCh38:
- Chr2:189010241
| COL3A1 | M1296T | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189856229
- GRCh38:
- Chr2:188991503
| COL3A1 | P290L | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jan 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189872351
- GRCh38:
- Chr2:189007625
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189858100
- GRCh38:
- Chr2:188993374
| COL3A1 | P355H | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859843
- GRCh38:
- Chr2:188995117
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189862488
- GRCh38:
- Chr2:188997762
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189874886
- GRCh38:
- Chr2:189010160
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189873873
- GRCh38:
- Chr2:189009147
| COL3A1 | S1250N | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189849901-189849904
- GRCh38:
- Chr2:188985175-188985178
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189874991
- GRCh38:
- Chr2:189010265
| COL3A1 | S1304T | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859035
- GRCh38:
- Chr2:188994309
| COL3A1 | A424S | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189857625
- GRCh38:
- Chr2:188992899
| COL3A1 | P337S | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189849942
- GRCh38:
- Chr2:188985216
| COL3A1 | G101D | not provided, Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:189864072
- GRCh38:
- Chr2:188999346
| COL3A1 | R695K | Ehlers-Danlos syndrome, type 4 | Uncertain significance (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189864073
- GRCh38:
- Chr2:188999347
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189849572
- GRCh38:
- Chr2:188984846
| COL3A1 | D56N | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189866138
- GRCh38:
- Chr2:189001412
| COL3A1 | I767V | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189873821
- GRCh38:
- Chr2:189009095
| COL3A1 | E1233K | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189870066
- GRCh38:
- Chr2:189005340
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859318
- GRCh38:
- Chr2:188994592
| COL3A1 | R449C | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 | Uncertain significance (Mar 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:189852833
- GRCh38:
- Chr2:188988107
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189859556
- GRCh38:
- Chr2:188994830
| COL3A1 | R485K | Ehlers-Danlos syndrome, type 4 | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189863061
- GRCh38:
- Chr2:188998335
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189857678
- GRCh38:
- Chr2:188992952
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189854858
- GRCh38:
- Chr2:188990132
| COL3A1 | G243R | Ehlers-Danlos syndrome, type 4 | Likely pathogenic (Apr 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189870924
- GRCh38:
- Chr2:189006198
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189862062
- GRCh38:
- Chr2:188997336
| COL3A1 | G606C | Ehlers-Danlos syndrome, type 4 | Likely pathogenic (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189855072-189855073
- GRCh38:
- Chr2:188990346-188990347
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely pathogenic (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189873764
- GRCh38:
- Chr2:189009038
| COL3A1 | G1214S | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189855042
- GRCh38:
- Chr2:188990316
| COL3A1 | G252S | Ehlers-Danlos syndrome, type 4 | Pathogenic (Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189850392
- GRCh38:
- Chr2:188985666
| COL3A1 | G112D | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189869046
- GRCh38:
- Chr2:189004320
| COL3A1 | G963fs | Ehlers-Danlos syndrome, type 4 | Pathogenic (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189868847
- GRCh38:
- Chr2:189004121
| COL3A1 | S934fs | Ehlers-Danlos syndrome, type 4 | Pathogenic (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189876397
- GRCh38:
- Chr2:189011671
| COL3A1 | T1433I | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189862977-189862988
- GRCh38:
- Chr2:188998251-188998262
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189850511
- GRCh38:
- Chr2:188985785
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189849556
- GRCh38:
- Chr2:188984830
| COL3A1 | C50* | Ehlers-Danlos syndrome, type 4 | Pathogenic (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189872673
- GRCh38:
- Chr2:189007947
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189855065
- GRCh38:
- Chr2:188990339
| COL3A1 | F259L | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189870191
- GRCh38:
- Chr2:189005465
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189875091
- GRCh38:
- Chr2:189010365
| COL3A1 | Q1337H | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189858823
- GRCh38:
- Chr2:188994097
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189874965
- GRCh38:
- Chr2:189010239
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Likely benign (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189872840
- GRCh38:
- Chr2:189008114
| COL3A1 | R1166P | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:189850504
- GRCh38:
- Chr2:188985778
| COL3A1 | | Ehlers-Danlos syndrome, type 4 | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |