Dystrophic epidermolysis bullosa: genes and variants
Explore variant evidence for Dystrophic epidermolysis bullosa across 1 analyzed protein (COL7A1). Linked ClinVar records include 64 pathogenic or likely pathogenic variants, 46 variants of uncertain significance and 35 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Dystrophic epidermolysis bullosa
COL7A1: Collagen alpha-1(VII) chain
It forms anchoring fibrils that secure the epidermal basement membrane to the underlying dermis. Pathogenic variants cause dystrophic epidermolysis bullosa, with skin fragility and scarring ranging from localized disease to severe generalized forms with major complications.
64 ClinVar pathogenic / likely pathogenic and 81 uncertain variants in COL7A1 have source records linked to Dystrophic epidermolysis bullosa. Association strength is not clinical gene validity.
Where Dystrophic epidermolysis bullosa variants cluster
- COL7A1 Triple-helical region (positions 1254–2784): 56 of 64 ClinVar pathogenic / likely pathogenic variants, 1.7× more than its size predicts.
- COL7A1 BPTI/Kunitz inhibitor (positions 2872–2944): 3 of 64 ClinVar pathogenic / likely pathogenic variants, 1.9× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Dystrophic epidermolysis bullosa
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL7A1 G1922E | 1922 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2061E | 2061 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2061V | 2061 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2263D | 2263 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2263V | 2263 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2366D | 2366 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2366V | 2366 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2775D | 2775 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 C2929F | 2929 | BPTI/Kunitz inhibitor | Pathogenic / likely pathogenic (★★) |
| COL7A1 C2929Y | 2929 | BPTI/Kunitz inhibitor | Pathogenic / likely pathogenic (★★) |
| COL7A1 G1383R | 1383 | Interrupted collagenous region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2040D | 2040 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2043R | 2043 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2114V | 2114 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2434R | 2434 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2722V | 2722 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2737R | 2737 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2775S | 2775 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G174R | 174 | VWFA 1 | Pathogenic / likely pathogenic (★★) |
| COL7A1 G1284S | 1284 | Interrupted collagenous region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G1314R | 1314 | Interrupted collagenous region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G1338R | 1338 | Interrupted collagenous region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G1347W | 1347 | Interrupted collagenous region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G1604R | 1604 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G1815E | 1815 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2213R | 2213 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2216E | 2216 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2351R | 2351 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 R2424W | 2424 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2517D | 2517 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2551R | 2551 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2689R | 2689 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2719A | 2719 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2749E | 2749 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G150R | 150 | VWFA 1 | Pathogenic / likely pathogenic (★★) |
| COL7A1 R1814C | 1814 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G1854R | 1854 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 R2008H | 2008 | Cell attachment site | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2049E | 2049 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2132D | 2132 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2330D | 2330 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 R2580C | 2580 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2680S | 2680 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G2740A | 2740 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL7A1 G1776E | 1776 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 G1797D | 1797 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 G1803R | 1803 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 G1919R | 1919 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 G2221A | 2221 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 G2520V | 2520 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 G2587D | 2587 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 Y2858H | 2858 | Nonhelical region (NC2) | Pathogenic / likely pathogenic (★) |
| COL7A1 G913R | 913 | Fibronectin type-III 8 | Pathogenic / likely pathogenic (★) |
| COL7A1 G1332D | 1332 | Interrupted collagenous region | Pathogenic / likely pathogenic (★) |
| COL7A1 G1448D | 1448 | Interrupted collagenous region | Pathogenic / likely pathogenic (★) |
| COL7A1 K1981R | 1981 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 G2012S | 2012 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 P2229L | 2229 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 G2428V | 2428 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL7A1 K2562N | 2562 | Triple-helical region | Pathogenic / likely pathogenic (★) |
Showing 60 of 64.
Which prediction tools work for Dystrophic epidermolysis bullosa
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- phyloP: 94 out of 100
- PolyPhen-2: 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 88 out of 100
- CADD: 87 out of 100
Same protein, different disease
- Recessive dystrophic epidermolysis bullosa also has ClinVar records linked to COL7A1 variants; they fall mostly in different places as the Dystrophic epidermolysis bullosa variants (53 pathogenic / likely pathogenic).
- Generalized dominant dystrophic epidermolysis bullosa also has ClinVar records linked to COL7A1 variants; they fall partly in the same places as the Dystrophic epidermolysis bullosa variants (26 pathogenic / likely pathogenic).
- Nonsyndromic congenital nail disorder 8 also has ClinVar records linked to COL7A1 variants; they fall partly in the same places as the Dystrophic epidermolysis bullosa variants (15 pathogenic / likely pathogenic).
- Dominant dystrophic epidermolysis bullosa with absence of skin also has ClinVar records linked to COL7A1 variants; they fall partly in the same places as the Dystrophic epidermolysis bullosa variants (12 pathogenic / likely pathogenic).
- Transient bullous dermolysis of the newborn also has ClinVar records linked to COL7A1 variants; they fall partly in the same places as the Dystrophic epidermolysis bullosa variants (10 pathogenic / likely pathogenic).
Diseases related to Dystrophic epidermolysis bullosa
- Recessive dystrophic epidermolysis bullosa, also linked to COL7A1
- Generalized dominant dystrophic epidermolysis bullosa, also linked to COL7A1
- Nonsyndromic congenital nail disorder 8, also linked to COL7A1
- Dominant dystrophic epidermolysis bullosa with absence of skin, also linked to COL7A1
- Transient bullous dermolysis of the newborn, also linked to COL7A1
- Epidermolysis bullosa simplex 1A, generalized severe, also linked to COL7A1
- Pretibial dystrophic epidermolysis bullosa, also linked to COL7A1
- Epidermolysis bullosa pruriginosa, also linked to COL7A1
- Epidermolysis bullosa, also linked to COL7A1
Frequently asked questions
Which genes have records linked to Dystrophic epidermolysis bullosa?
This view contains 1 analyzed proteins: COL7A1. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 64 pathogenic or likely pathogenic variants, 46 variants of uncertain significance and 35 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 162 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center