| - GRCh37:
- Chr10:105798881
- GRCh38:
- Chr10:104039123
| COL17A1 | | Epithelial recurrent erosion dystrophy | Likely pathogenic
(Oct 9, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr10:105811266
- GRCh38:
- Chr10:104051508
| COL17A1 | G671S | not provided, Epithelial recurrent erosion dystrophy | Uncertain significance
(Jun 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105811911
- GRCh38:
- Chr10:104052153
| COL17A1 | | Epithelial recurrent erosion dystrophy | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:105821136
- GRCh38:
- Chr10:104061378
| COL17A1 | | Epithelial recurrent erosion dystrophy, not provided, Junctional epidermolysis bullosa, non-Herlitz type
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105816685
- GRCh38:
- Chr10:104056927
| COL17A1 | | Epithelial recurrent erosion dystrophy, not provided, Junctional epidermolysis bullosa, non-Herlitz type
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105831793
- GRCh38:
- Chr10:104072035
| COL17A1 | R154* | Epithelial recurrent erosion dystrophy | Pathogenic
(Apr 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:105810636
- GRCh38:
- Chr10:104050878
| COL17A1 | R688* | Epithelial recurrent erosion dystrophy | Pathogenic
(Apr 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:105797536
- GRCh38:
- Chr10:104037778
| COL17A1 | | Epithelial recurrent erosion dystrophy | Uncertain significance
(Apr 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:105793717
- GRCh38:
- Chr10:104033959
| COL17A1 | S1381L | Epithelial recurrent erosion dystrophy | Uncertain significance
(Apr 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:105794406
- GRCh38:
- Chr10:104034648
| COL17A1 | R1247W | not provided, Junctional epidermolysis bullosa, non-Herlitz type | Uncertain significance
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105795331
- GRCh38:
- Chr10:104035573
| COL17A1 | | not provided, Epithelial recurrent erosion dystrophy, Epidermolysis bullosa, junctional 4, intermediate
| Likely benign
(Sep 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105816862
- GRCh38:
- Chr10:104057104
| COL17A1 | G446S | not provided, Epithelial recurrent erosion dystrophy, Epidermolysis bullosa, junctional 4, intermediate,
Junctional epidermolysis bullosa, non-Herlitz type | Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105793778
- GRCh38:
- Chr10:104034020
| COL17A1 | G1361R | Inborn genetic diseases, not provided, Junctional epidermolysis bullosa, non-Herlitz type,
Epidermolysis bullosa, junctional 4, intermediate, Epithelial recurrent erosion dystrophy | Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105824333
- GRCh38:
- Chr10:104064575
| COL17A1 | T210M | Epithelial recurrent erosion dystrophy, not specified, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105793750
- GRCh38:
- Chr10:104033992
| COL17A1 | D1370G | Epithelial recurrent erosion dystrophy, not specified, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105796399
- GRCh38:
- Chr10:104036641
| COL17A1 | | Epithelial recurrent erosion dystrophy, not specified, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105796819
- GRCh38:
- Chr10:104037061
| COL17A1 | | Epithelial recurrent erosion dystrophy, not specified, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105797378
- GRCh38:
- Chr10:104037620
| COL17A1 | | Epithelial recurrent erosion dystrophy, Junctional epidermolysis bullosa, non-Herlitz type, not specified,
not provided | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105798872
- GRCh38:
- Chr10:104039114
| COL17A1 | | not specified, Epithelial recurrent erosion dystrophy, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105799216
- GRCh38:
- Chr10:104039458
| COL17A1 | | not specified, Epithelial recurrent erosion dystrophy, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105801253
- GRCh38:
- Chr10:104041495
| COL17A1 | | Epithelial recurrent erosion dystrophy, not specified, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105805497
- GRCh38:
- Chr10:104045739
| COL17A1 | | not provided, Junctional epidermolysis bullosa, non-Herlitz type, Epithelial recurrent erosion dystrophy,
not specified | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105810400
- GRCh38:
- Chr10:104050642
| COL17A1 | M703V | not specified, Epithelial recurrent erosion dystrophy, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105816916
- GRCh38:
- Chr10:104057158
| COL17A1 | G428S | Epithelial recurrent erosion dystrophy, not specified, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105819956
- GRCh38:
- Chr10:104060198
| COL17A1 | | Epithelial recurrent erosion dystrophy, not specified, not provided,
Junctional epidermolysis bullosa, non-Herlitz type | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:105797446
- GRCh38:
- Chr10:104037688
| COL17A1 | | Epithelial recurrent erosion dystrophy | Pathogenic
(Apr 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr10:105799371
- GRCh38:
- Chr10:104039613
| COL17A1 | T939I | Epithelial recurrent erosion dystrophy | Pathogenic
(Apr 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr10:105793951
- GRCh38:
- Chr10:104034193
| COL17A1 | R1303Q | Epithelial recurrent erosion dystrophy, not provided | Pathogenic/Likely pathogenic
(Dec 11, 2022) | criteria provided, multiple submitters, no conflicts |