COL7A1 — 5990 ClinVar variants

All ClinVar germline COL7A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1045 flagged for review →

551 Pathogenic · 133 Pathogenic/Likely pathogenic · 362 Likely pathogenic · 354 Conflicting · 94 Benign · 28 Benign/Likely benign · 2866 Likely benign · 1602 Uncertain significance

Full COL7A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1045

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 49

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

COL7A1 p.Arg1772Trp Pathogenic/Likely pathogenic Multiple submitters
pretibial dystrophic epidermolysis bullosa
COL7A1 p.Arg1957Trp Pathogenic Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Arg2008Cys Pathogenic/Likely pathogenic Multiple submitters
pretibial dystrophic epidermolysis bullosa
COL7A1 p.Arg2008Gly Pathogenic Multiple submitters
nonsyndromic congenital nail disorder 8
COL7A1 p.Arg2008His Pathogenic/Likely pathogenic Multiple submitters
dystrophic epidermolysis bullosa pruriginosa
COL7A1 p.Arg2063Trp Pathogenic Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Arg2069Cys Pathogenic/Likely pathogenic Multiple submitters
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Arg2424Trp Pathogenic Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Arg2580Cys Pathogenic/Likely pathogenic Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Arg2622Gln Pathogenic/Likely pathogenic Multiple submitters
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Arg2622Trp Pathogenic/Likely pathogenic Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Arg2628Trp Pathogenic/Likely pathogenic Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Arg2745Gln Likely pathogenic Multiple submitters
nonsyndromic congenital nail disorder 8
COL7A1 p.Gln2072Arg Pathogenic Multiple submitters
COL7A1 p.Glu2059Gly Pathogenic/Likely pathogenic Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Gly1284Ser Pathogenic/Likely pathogenic Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2647Ser Likely pathogenic Multiple submitters
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2775Ser Pathogenic Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Lys142Arg Pathogenic Multiple submitters
dystrophic epidermolysis bullosa pruriginosa
COL7A1 p.Pro1699Leu Pathogenic/Likely pathogenic Multiple submitters
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Arg1957Gly Likely pathogenic Single submitter
COL7A1 p.Arg2008Leu Likely pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Arg2008Pro Likely pathogenic Single submitter
COL7A1 p.Arg2063Gly Likely pathogenic Single submitter
transient bullous dermolysis of the newborn
COL7A1 p.Arg28Gly Likely pathogenic Single submitter
COL7A1 p.Gln1924Arg Pathogenic Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly1622Ser Likely pathogenic Single submitter
COL7A1 p.Gly1664Ala Pathogenic Single submitter
COL7A1 p.Gly1890Ser Likely pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly1919Ala Likely pathogenic Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2064Ala Likely pathogenic Single submitter
COL7A1 p.Gly2076Ser Likely pathogenic Single submitter
COL7A1 p.Gly2114Ala Likely pathogenic Single submitter
COL7A1 p.Gly2218Ala Likely pathogenic Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2281Ala Pathogenic Single submitter
COL7A1 p.Gly2377Ser Pathogenic Single submitter
COL7A1 p.Gly2410Ser Likely pathogenic Single submitter
COL7A1 p.Gly503Arg Pathogenic Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly913Arg Pathogenic Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Lys1981Arg Likely pathogenic Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Lys1981Met Pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Lys2066Thr Likely pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Lys2682Arg Pathogenic Single submitter
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Met2415Ile Likely pathogenic Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Pro2042Leu Pathogenic Single submitter
epidermolysis bullosa
COL7A1 p.Pro2229Leu Pathogenic Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Pro2256Leu Pathogenic Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Val709Ala Pathogenic Single submitter
COL7A1 p.Gln2300Arg Pathogenic No assertion criteria
COL7A1-related disorder

Predictors agree, ClinVar conflicts 157

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 157

COL7A1 p.Ala1053Val Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ala1071Ser Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ala1071Thr Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ala1562Pro Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ala1790Pro Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ala1790Thr Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Ala2399Val Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Ala254Val Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Ala2810Thr Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ala312Thr Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ala927Val Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ala9Val Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg1036Trp Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg1068His Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Arg1078His Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg1122His Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg1334His Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg1482Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg1574Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg1630Gln Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg1632Gln Conflicting Single submitter
COL7A1 p.Arg1724His Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg1870His Conflicting Single submitter
COL7A1 p.Arg2217Gln Conflicting Single submitter
COL7A1 p.Arg226Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg2332Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg2346His Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg280Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg2835His Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg2844Trp Conflicting Single submitter
COL7A1 p.Arg2927Cys Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg2927His Conflicting Single submitter
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Arg2928His Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg298Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg348Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg383Cys Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg442Cys Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg442His Conflicting Single submitter
COL7A1 p.Arg445Gln Conflicting Single submitter
COL7A1 p.Arg449Trp Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg450Cys Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg450His Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg525Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg549Trp Conflicting Single submitter
COL7A1 p.Arg574Trp Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Arg582Cys Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg605Trp Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg613Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg628Trp Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Arg682Gln Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg811Trp Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg910Trp Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg931Cys Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg956His Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg963His Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg990Gln Conflicting Single submitter
pretibial dystrophic epidermolysis bullosa
COL7A1 p.Asn1841Lys Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Asp1273Ala Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Asp2871Asn Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Asp646His Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Asp850Asn Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Cys2885Tyr Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Gln662Arg Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Glu1986Lys Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Glu242Lys Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Glu2857Lys Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Glu672Asp Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Glu813Lys Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Glu835Lys Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Glu888Gln Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly1115Arg Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Gly114Val Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly1368Arg Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly1424Glu Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Gly1495Val Conflicting Single submitter
COL7A1 p.Gly1498Arg Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly1575Cys Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly1725Arg Conflicting Single submitter
transient bullous dermolysis of the newborn
COL7A1 p.Gly1794Glu Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly1869Arg Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly2000Arg Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2015Val Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly2049Arg Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2114Asp Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2147Val Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2221Glu Conflicting Single submitter
COL7A1 p.Gly2224Arg Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2254Glu Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2317Ser Conflicting Single submitter
COL7A1 p.Gly2333Val Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2354Arg Conflicting Single submitter
COL7A1 p.Gly2369Asp Conflicting Single submitter
COL7A1 p.Gly2369Ser Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2372Glu Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2455Arg Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2472Ser Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2527Arg Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2527Glu Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly2629Arg Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly2656Val Conflicting Single submitter
COL7A1 p.Gly2659Glu Conflicting Single submitter
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Gly2743Ser Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2825Ser Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Gly321Arg Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Gly490Ser Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly853Ser Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.His1067Tyr Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.His2829Tyr Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Ile123Leu Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ile1476Thr Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ile1996Val Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ile308Thr Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Ile679Val Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Ile986Met Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Leu5Val Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Met1189Val Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Met1262Thr Conflicting Single submitter
amelogenesis imperfecta type 1
COL7A1 p.Pro1038Ser Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Pro1331Ser Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Pro1342Ser Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Pro1795Leu Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Pro2134Ser Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Pro228Leu Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Pro2847Ser Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Pro2931Ser Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Pro331Leu Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Pro423Leu Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Pro457Leu Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Pro581Ser Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Pro622His Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Pro863Arg Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Ser1291Asn Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ser1373Leu Conflicting Single submitter
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Ser1984Leu Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Ser2121Gly Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ser585Asn Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ser625Thr Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Ser968Leu Conflicting Single submitter
COL7A1-related disorder
COL7A1 p.Thr1136Ile Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Thr218Ile Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Thr2295Met Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Thr2495Met Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Thr260Ala Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Thr270Met Conflicting Single submitter
COL7A1-related disorder
COL7A1 p.Thr558Lys Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Thr750Met Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Val1138Met Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Val1216Met Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Val198Ile Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Val2133Ala Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 690

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 690

COL7A1 p.Ala1061Thr Uncertain significance Multiple submitters
COL7A1-related disorder
COL7A1 p.Ala1282Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ala1864Val Uncertain significance Multiple submitters
COL7A1 p.Ala2258Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ala2513Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ala255Val Uncertain significance Multiple submitters
COL7A1 p.Ala74Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ala74Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ala866Ser Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Arg1074Lys Uncertain significance Multiple submitters
COL7A1 p.Arg1154Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg1154Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg1408Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg1470Gln Uncertain significance Multiple submitters
COL7A1 p.Arg1574Trp Uncertain significance Multiple submitters
COL7A1-related epidermolysis bullosa
COL7A1 p.Arg1772Gln Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Arg1978Pro Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Arg2146Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg2485His Uncertain significance Multiple submitters
COL7A1 p.Arg26Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg324Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg401Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg481His Uncertain significance Multiple submitters
thyroid gland disorder
COL7A1 p.Arg542Cys Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Arg578Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg582His Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg593Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg615Met Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Arg671Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg716Met Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg878His Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg910Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg963Cys Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Asp2007Glu Uncertain significance Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Asp2010Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Asp790Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Cys2802Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Gln251Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Gln536His Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Gln894Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Glu1339Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Glu1422Lys Uncertain significance Multiple submitters
COL7A1 p.Glu1521Gln Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Glu17Gln Uncertain significance Multiple submitters
COL7A1 p.Glu27Gly Uncertain significance Multiple submitters
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Glu915Lys Uncertain significance Multiple submitters
COL7A1 p.Glu925Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Gly100Arg Uncertain significance Multiple submitters
COL7A1 p.Gly101Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Gly1275Asp Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Gly1358Ser Uncertain significance Multiple submitters
COL7A1 p.Gly1676Arg Uncertain significance Multiple submitters
dystrophic epidermolysis bullosa pruriginosa
COL7A1 p.Gly2251Arg Uncertain significance Multiple submitters
COL7A1 p.Gly2304Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Gly815Ser Uncertain significance Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly98Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.His899Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ile1476Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Leu1276Phe Uncertain significance Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Leu1393Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Lys1443Asn Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Lys1518Glu Uncertain significance Multiple submitters
nonsyndromic congenital nail disorder 8
COL7A1 p.Met1189Thr Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Met817Ile Uncertain significance Multiple submitters
COL7A1 p.Phe1484Leu Uncertain significance Multiple submitters
COL7A1 p.Pro1337Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Pro1337Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Pro1644Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Pro2172Leu Uncertain significance Multiple submitters
COL7A1 p.Pro228Ser Uncertain significance Multiple submitters
COL7A1 p.Pro2364Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Pro507Leu Uncertain significance Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Pro510Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Pro644Ser Uncertain significance Multiple submitters
COL7A1 p.Pro816Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Pro863Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Pro889Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser1012Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser1097Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser1686Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser2273Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser2273Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser245Ile Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser2670Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser2729Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser314Ile Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Ser630Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser698Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ser841Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Thr1396Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Thr225Ile Uncertain significance Multiple submitters
COL7A1 p.Thr290Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Thr394Ile Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Thr544Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Thr612Met Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Thr747Ala Uncertain significance Multiple submitters
COL7A1 p.Thr795Ile Uncertain significance Multiple submitters
COL7A1 p.Thr800Pro Uncertain significance Multiple submitters
COL7A1 p.Val1075Ala Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Val1157Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Val1210Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Val1268Ala Uncertain significance Multiple submitters
COL7A1 p.Val21Met Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Val2276Met Uncertain significance Multiple submitters
COL7A1 p.Val2402Ile Uncertain significance Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Val2933Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Val319Met Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Val362Ile Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Val565Ile Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Val614Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Val767Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Val848Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ala1040Thr Uncertain significance Single submitter
COL7A1 p.Ala1053Thr Uncertain significance Single submitter
COL7A1 p.Ala1061Gly Uncertain significance Single submitter
COL7A1 p.Ala1150Ser Uncertain significance Single submitter
COL7A1 p.Ala1204Thr Uncertain significance Single submitter
COL7A1 p.Ala1225Thr Uncertain significance Single submitter
Inborn genetic diseases
COL7A1 p.Ala1225Val Uncertain significance Single submitter
COL7A1 p.Ala122Thr Uncertain significance Single submitter
COL7A1 p.Ala122Val Uncertain significance Single submitter
COL7A1 p.Ala1292Val Uncertain significance Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Ala1351Ser Uncertain significance Single submitter
COL7A1 p.Ala136Gly Uncertain significance Single submitter
Inborn genetic diseases
COL7A1 p.Ala1419Ser Uncertain significance Single submitter
COL7A1 p.Ala1475Val Uncertain significance Single submitter
COL7A1 p.Ala1548Thr Uncertain significance Single submitter
COL7A1 p.Ala1662Pro Uncertain significance Single submitter
Inborn genetic diseases
COL7A1 p.Ala1715Thr Uncertain significance Single submitter
Inborn genetic diseases
COL7A1 p.Ala1741Thr Uncertain significance Single submitter
COL7A1 p.Ala1741Val Uncertain significance Single submitter
COL7A1 p.Ala1789Asp Uncertain significance Single submitter
COL7A1 p.Ala1799Val Uncertain significance Single submitter
COL7A1 p.Ala1864Asp Uncertain significance Single submitter
COL7A1 p.Ala1955Thr Uncertain significance Single submitter
COL7A1 p.Ala2197Val Uncertain significance Single submitter
COL7A1 p.Ala2225Val Uncertain significance Single submitter
COL7A1 p.Ala2297Ser Uncertain significance Single submitter
COL7A1 p.Ala2534Pro Uncertain significance Single submitter
COL7A1 p.Ala2591Thr Uncertain significance Single submitter
Inborn genetic diseases
COL7A1 p.Ala2655Val Uncertain significance Single submitter
COL7A1 p.Ala2672Gly Uncertain significance Single submitter
COL7A1 p.Ala2672Ser Uncertain significance Single submitter
COL7A1 p.Ala2672Thr Uncertain significance Single submitter
COL7A1 p.Ala2755Thr Uncertain significance Single submitter
COL7A1 p.Ala2810Pro Uncertain significance Single submitter
COL7A1 p.Ala2824Ser Uncertain significance Single submitter
COL7A1 p.Ala2824Val Uncertain significance Single submitter
COL7A1 p.Ala2896Ser Uncertain significance Single submitter
COL7A1 p.Ala2916Val Uncertain significance Single submitter

Predictors split 149

The independent predictors disagree with each other — read with care.

COL7A1 p.Arg1388Cys Uncertain significance Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Arg1724Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg1780Trp Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg1814Cys Pathogenic/Likely pathogenic Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Arg2158Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Arg2474Cys Uncertain significance Multiple submitters
COL7A1 p.Arg2480Trp Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Asp1196Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Gly1353Arg Uncertain significance Multiple submitters
COL7A1 p.Gly1386Ala Uncertain significance Multiple submitters
COL7A1 p.Gly1546Arg Uncertain significance Multiple submitters
COL7A1 p.Gly1546Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Gly1569Arg Likely pathogenic Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Gly1901Ser Uncertain significance Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2006Ala Pathogenic/Likely pathogenic Multiple submitters
epidermolysis bullosa
COL7A1 p.Gly2034Ala Pathogenic/Likely pathogenic Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Gly2216Glu Pathogenic Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2233Ser Pathogenic Multiple submitters
COL7A1-related disorder
COL7A1 p.Gly2257Ala Pathogenic/Likely pathogenic Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Gly2366Ala Pathogenic/Likely pathogenic Multiple submitters
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2372Val Pathogenic/Likely pathogenic Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2398Ser Uncertain significance Multiple submitters
COL7A1 p.Gly2719Ala Pathogenic/Likely pathogenic Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Ile704Asn Uncertain significance Multiple submitters
COL7A1 p.Lys2312Asn Uncertain significance Multiple submitters
recessive dystrophic epidermolysis bullosa
COL7A1 p.Pro1458Leu Benign/Likely benign Multiple submitters
epidermolysis bullosa dystrophica
COL7A1 p.Pro1705Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Pro2119Leu Uncertain significance Multiple submitters
COL7A1 p.Ser968Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Tyr391Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL7A1 p.Ala106Val Likely benign Single submitter
COL7A1 p.Ala1225Pro Likely benign Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Ala122Ser Uncertain significance Single submitter
COL7A1 p.Ala172Val Conflicting Single submitter
Inborn genetic diseases
COL7A1 p.Arg105Cys Uncertain significance Single submitter
COL7A1 p.Arg108Cys Uncertain significance Single submitter
COL7A1 p.Arg1497Cys Likely benign Single submitter
COL7A1 p.Arg1657Cys Uncertain significance Single submitter
COL7A1 p.Arg1660Trp Conflicting Single submitter
pretibial dystrophic epidermolysis bullosa
COL7A1 p.Arg1696Cys Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg1814Gly Likely pathogenic Single submitter
COL7A1 p.Arg2217Trp Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Arg2412Leu Uncertain significance Single submitter
COL7A1 p.Arg2651Cys Uncertain significance Single submitter
COL7A1 p.Arg2703Trp Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg2791Trp Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Arg51Gly Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Arg78Cys Uncertain significance Single submitter
COL7A1 p.Asp1218Val Uncertain significance Single submitter
Inborn genetic diseases
COL7A1 p.Gly1278Ser Uncertain significance Single submitter
COL7A1 p.Gly1281Ser Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly1311Ala Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly1347Ala Likely pathogenic Single submitter
COL7A1 p.Gly1350Arg Uncertain significance Single submitter
COL7A1 p.Gly1353Val Uncertain significance Single submitter
COL7A1 p.Gly1371Ala Uncertain significance Single submitter
COL7A1 p.Gly1374Ala Uncertain significance Single submitter
COL7A1 p.Gly1374Cys Uncertain significance Single submitter
COL7A1 p.Gly1400Ser Pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly1421Arg Uncertain significance Single submitter
COL7A1 p.Gly1427Ser Uncertain significance Single submitter
COL7A1 p.Gly1483Ala Uncertain significance Single submitter
COL7A1 p.Gly1501Ala Uncertain significance Single submitter
COL7A1 p.Gly1519Ser Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly1537Ser Uncertain significance Single submitter
COL7A1 p.Gly1572Ala Uncertain significance Single submitter
COL7A1 p.Gly1578Ser Uncertain significance Single submitter
COL7A1 p.Gly1586Ser Uncertain significance Single submitter
COL7A1 p.Gly1598Ala Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly1628Ala Uncertain significance Single submitter
COL7A1 p.Gly1643Ser Uncertain significance Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly1700Val Likely pathogenic Single submitter
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Gly1722Glu Conflicting Single submitter
COL7A1 p.Gly1761Ser Pathogenic Single submitter
COL7A1 p.Gly1764Ala Conflicting Single submitter
COL7A1 p.Gly1824Val Uncertain significance Single submitter
Inborn genetic diseases
COL7A1 p.Gly1866Ala Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly1899Cys Uncertain significance Single submitter
COL7A1 p.Gly1979Val Uncertain significance Single submitter
COL7A1 p.Gly1988Ala Uncertain significance Single submitter
COL7A1 p.Gly1997Ser Uncertain significance Single submitter
COL7A1 p.Gly2009Ala Pathogenic Single submitter
COL7A1 p.Gly2012Ser Pathogenic Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly2025Ala Uncertain significance Single submitter
COL7A1 p.Gly2025Ser Pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2031Ser Conflicting Single submitter
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Gly2046Ser Pathogenic Single submitter
generalized dominant dystrophic epidermolysis bullosa
COL7A1 p.Gly2070Ala Pathogenic Single submitter
COL7A1 p.Gly2082Val Uncertain significance Single submitter
COL7A1 p.Gly2108Glu Uncertain significance Single submitter
COL7A1 p.Gly2114Ser Likely pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2150Ser Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2189Ser Uncertain significance Single submitter
COL7A1 p.Gly2218Ser Uncertain significance Single submitter
COL7A1 p.Gly2221Ala Pathogenic Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Gly2239Ser Pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2245Ser Pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2272Ala Likely pathogenic Single submitter
COL7A1 p.Gly2316Arg Uncertain significance Single submitter
COL7A1 p.Gly2360Ala Pathogenic Single submitter
COL7A1 p.Gly2383Ala Uncertain significance Single submitter
COL7A1 p.Gly2395Ser Uncertain significance Single submitter
COL7A1 p.Gly2401Ala Uncertain significance Single submitter
COL7A1 p.Gly2407Ser Pathogenic Single submitter
COL7A1 p.Gly2419Ser Conflicting Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2475Ala Uncertain significance Single submitter
COL7A1 p.Gly2487Ser Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2545Ser Uncertain significance Single submitter
COL7A1 p.Gly2572Ser Uncertain significance Single submitter
COL7A1 p.Gly2578Ala Uncertain significance Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Gly2587Ser Uncertain significance Single submitter
COL7A1 p.Gly2608Ser Uncertain significance Single submitter
COL7A1 p.Gly2665Ala Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2668Ala Conflicting Single submitter
nonsyndromic congenital nail disorder 8
COL7A1 p.Gly2668Ser Uncertain significance Single submitter
COL7A1 p.Gly2692Ser Uncertain significance Single submitter
COL7A1 p.Gly2731Ser Pathogenic Single submitter
COL7A1 p.Ile704Thr Uncertain significance Single submitter
COL7A1 p.Lys1399Met Uncertain significance Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Lys2309Thr Likely pathogenic Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Lys2535Met Uncertain significance Single submitter
dystrophic epidermolysis bullosa pruriginosa
COL7A1 p.Phe1026Leu Uncertain significance Single submitter
COL7A1 p.Phe1106Cys Uncertain significance Single submitter
COL7A1 p.Phe2405Leu Uncertain significance Single submitter
COL7A1 p.Phe560Leu Uncertain significance Single submitter
COL7A1 p.Pro1307Leu Uncertain significance Single submitter
COL7A1 p.Pro1364Leu Uncertain significance Single submitter
COL7A1 p.Pro141Ser Uncertain significance Single submitter
COL7A1 p.Pro1805Leu Conflicting Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Pro1850Arg Uncertain significance Single submitter
COL7A1 p.Pro1850Leu Uncertain significance Single submitter
COL7A1 p.Pro1850Ser Likely benign Single submitter
epidermolysis bullosa dystrophica
COL7A1 p.Pro1892Leu Uncertain significance Single submitter
COL7A1 p.Pro2057Leu Uncertain significance Single submitter
recessive dystrophic epidermolysis bullosa
COL7A1 p.Pro209Leu Uncertain significance Single submitter
COL7A1 p.Pro2167Leu Benign Single submitter
COL7A1 p.Pro2468Arg Uncertain significance Single submitter
COL7A1 p.Pro2673Leu Uncertain significance Single submitter
COL7A1 p.Pro2681Arg Uncertain significance Single submitter
COL7A1 p.Pro2759Arg Uncertain significance Single submitter
COL7A1 p.Ser47Leu Uncertain significance Single submitter
COL7A1 p.Thr952Asn Uncertain significance Single submitter
COL7A1 p.Trp900Cys Uncertain significance Single submitter
Inborn genetic diseases
COL7A1 p.Tyr985Cys Uncertain significance Single submitter
COL7A1 p.Tyr985His Uncertain significance Single submitter
COL7A1 p.Glu2423Gly Uncertain significance No assertion criteria
COL7A1-related disorder
COL7A1 p.Pro1539Leu Uncertain significance No assertion criteria
epidermolysis bullosa dystrophica
COL7A1 p.Pro1687Ser Uncertain significance No assertion criteria
epidermolysis bullosa dystrophica
COL7A1 p.Pro1936Leu Uncertain significance No assertion criteria
epidermolysis bullosa dystrophica

All COL7A1 variants

Pathogenic 551

Showing the top 300 by review status; the full set is in the sitemap.

c.2992+2T>G Multiple submitters epidermolysis bullosa dystrophica
c.3140-1G>A Multiple submitters epidermolysis bullosa dystrophica
c.4048-1G>T Multiple submitters dystrophic epidermolysis bullosa pruriginosa
c.4342-1G>T Multiple submitters recessive dystrophic epidermolysis bullosa
c.4342-2A>G Multiple submitters epidermolysis bullosa dystrophica
c.4783-1G>A Multiple submitters epidermolysis bullosa dystrophica
c.5532+1G>T Multiple submitters epidermolysis bullosa dystrophica
c.5532+5G>A Multiple submitters recessive dystrophic epidermolysis bullosa
c.5701-1G>T Multiple submitters
c.5772+1del Multiple submitters epidermolysis bullosa dystrophica
c.6573+1G>C Multiple submitters epidermolysis bullosa dystrophica
c.6751-1G>T Multiple submitters nonsyndromic congenital nail disorder 8
c.6751-2_6751-1del Multiple submitters recessive dystrophic epidermolysis bullosa
c.7380+2T>C Multiple submitters epidermolysis bullosa dystrophica
c.7930-1G>C Multiple submitters epidermolysis bullosa dystrophica
c.8109+1G>A Multiple submitters recessive dystrophic epidermolysis bullosa
c.8219_8226+1delinsAC Multiple submitters epidermolysis bullosa dystrophica
c.8357_8358+4del Multiple submitters recessive dystrophic epidermolysis bullosa
c.846+2T>C Multiple submitters epidermolysis bullosa dystrophica
p.Ala1517fs Multiple submitters epidermolysis bullosa dystrophica
p.Ala159fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Ala2755fs Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Arg1050fs Multiple submitters epidermolysis bullosa dystrophica
p.Arg1340Ter Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Arg1343Ter Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Arg137Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg1630Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg1632Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg1683Ter Multiple submitters COL7A1-related disorder
p.Arg1763Ter Multiple submitters COL7A1-related disorder
p.Arg185Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg1933Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg1957Trp Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Arg1978Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg2008Gly Multiple submitters nonsyndromic congenital nail disorder 8 ⚠
p.Arg2063Trp Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Arg20fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg2261Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg226Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg2332Ter Multiple submitters dystrophic epidermolysis bullosa pruriginosa
p.Arg2338Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg236Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg2412Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg2424Trp Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Arg2471Ter Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Arg2492Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg2610Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg2685Ter Multiple submitters dystrophic epidermolysis bullosa pruriginosa
p.Arg2745Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg2791fs Multiple submitters
p.Arg2814Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg525Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg578Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg669Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg682Ter Multiple submitters epidermolysis bullosa dystrophica
p.Asn1684fs Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Asn825fs Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Asp1590fs Multiple submitters epidermolysis bullosa dystrophica
p.Asp2570fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Cys31fs Multiple submitters
p.Gln1044Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gln1211Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gln1530Ter Multiple submitters COL7A1-related disorder
p.Gln2072Arg Multiple submitters ⚠
p.Gln2417Ter Multiple submitters epidermolysis bullosa dystrophica
p.Gln2488Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gln251Ter Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Gln2586fs Multiple submitters epidermolysis bullosa dystrophica
p.Gln265Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gln475Ter Multiple submitters epidermolysis bullosa dystrophica
p.Gln536Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gln908Ter Multiple submitters transient bullous dermolysis of the newborn
p.Gln929fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gln929Ter Multiple submitters nonsyndromic congenital nail disorder 8
p.Glu109fs Multiple submitters transient bullous dermolysis of the newborn
p.Glu2663Ter Multiple submitters epidermolysis bullosa dystrophica
p.Glu774delinsAspTer Multiple submitters transient bullous dermolysis of the newborn
p.Glu903fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1281fs Multiple submitters epidermolysis bullosa dystrophica
p.Gly1317fs Multiple submitters epidermolysis bullosa dystrophica
p.Gly1347Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly1610fs Multiple submitters epidermolysis bullosa dystrophica
p.Gly1640fs Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly1703Glu Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1712fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1755Asp Multiple submitters
p.Gly1755fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1767Glu Multiple submitters
p.Gly1782Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly1907Asp Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2003Arg Multiple submitters Inborn genetic diseases
p.Gly2003Glu Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2009Arg Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2012Asp Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2015Glu Multiple submitters epidermolysis bullosa dystrophica
p.Gly2025fs Multiple submitters
p.Gly2028Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly2034Arg Multiple submitters COL7A1-related disorder
p.Gly2037Arg Multiple submitters
p.Gly2040Asp Multiple submitters epidermolysis bullosa dystrophica
p.Gly2040Ser Multiple submitters epidermolysis bullosa dystrophica
p.Gly2043Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly2055Glu Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2061Glu Multiple submitters epidermolysis bullosa dystrophica
p.Gly2061Val Multiple submitters epidermolysis bullosa dystrophica
p.Gly2064Arg Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2064Glu Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2076Asp Multiple submitters epidermolysis bullosa dystrophica
p.Gly2079Arg Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Gly2088Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2177fs Multiple submitters COL7A1-related disorder
p.Gly2216Glu Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Gly2233Ser Multiple submitters COL7A1-related disorder ⚠
p.Gly2242Arg Multiple submitters
p.Gly2287Arg Multiple submitters COL7A1-related disorder
p.Gly2351Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2360Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2366Asp Multiple submitters epidermolysis bullosa dystrophica
p.Gly2575Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2596fs Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2653Arg Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2674Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2680Ser Multiple submitters epidermolysis bullosa dystrophica
p.Gly2689Arg Multiple submitters COL7A1-related disorder
p.Gly2698fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Gly2704Arg Multiple submitters
p.Gly2713Asp Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2722Val Multiple submitters epidermolysis bullosa dystrophica
p.Gly2737Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2749Arg Multiple submitters COL7A1-related disorder
p.Gly2775Ser Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Gly296fs Multiple submitters epidermolysis bullosa dystrophica
p.Leu64fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Leu870fs Multiple submitters
p.Lys142Arg Multiple submitters dystrophic epidermolysis bullosa pruriginosa ⚠
p.Lys1672fs Multiple submitters epidermolysis bullosa dystrophica
p.Lys1859fs Multiple submitters epidermolysis bullosa dystrophica
p.Lys2289fs Multiple submitters
p.Met1Val Multiple submitters recessive dystrophic epidermolysis bullosa
p.Met2415fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Pro1158fs Multiple submitters epidermolysis bullosa dystrophica
p.Pro1337= Multiple submitters recessive dystrophic epidermolysis bullosa
p.Pro1892fs Multiple submitters
p.Pro2029fs Multiple submitters epidermolysis bullosa dystrophica
p.Pro2090fs Multiple submitters Abnormality of the skin
p.Pro2385fs Multiple submitters
p.Pro2847_Glu2848insTer Multiple submitters epidermolysis bullosa dystrophica
p.Ser1209fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Ser2900fs Multiple submitters epidermolysis bullosa dystrophica
p.Ser48Phe Multiple submitters recessive dystrophic epidermolysis bullosa
p.Ser587fs Multiple submitters epidermolysis bullosa dystrophica
p.Thr119fs Multiple submitters epidermolysis bullosa dystrophica
p.Thr2220fs Multiple submitters epidermolysis bullosa dystrophica
p.Trp796Ter Multiple submitters
p.Trp976Ter Multiple submitters epidermolysis bullosa
p.Tyr1126fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Tyr485fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Val168fs Multiple submitters epidermolysis bullosa dystrophica
p.Val769fs Multiple submitters epidermolysis bullosa dystrophica
c.1241-2A>G Single submitter epidermolysis bullosa simplex 1A, generalized severe
c.1507+1G>A Single submitter
c.1781-1G>C Single submitter
c.2051-1G>A Single submitter
c.2440+1G>A Single submitter
c.2587+1G>C Single submitter
c.267-1G>A Single submitter
c.267-3C>G Single submitter epidermolysis bullosa dystrophica
c.2993-5_3007dup Single submitter
c.3277-1G>C Single submitter epidermolysis bullosa dystrophica
c.3550+1del Single submitter
c.3759+1G>T Single submitter epidermolysis bullosa dystrophica
c.3759+2T>G Single submitter epidermolysis bullosa dystrophica
c.4048-1G>A Single submitter epidermolysis bullosa dystrophica
c.4119+1G>A Single submitter
c.4401+1G>A Single submitter epidermolysis bullosa dystrophica
c.4482+1G>A Single submitter
c.4518+1G>A Single submitter
c.4603del Single submitter recessive dystrophic epidermolysis bullosa
c.4783-2A>T Single submitter
c.4899+1G>A Single submitter epidermolysis bullosa dystrophica
c.4980+1G>C Single submitter recessive dystrophic epidermolysis bullosa
c.4980+1G>T Single submitter
c.5097+1G>C Single submitter
c.520+1G>A Single submitter epidermolysis bullosa dystrophica
c.5388+1G>A Single submitter
c.5388+5G>A Single submitter
c.5425-1G>C Single submitter
c.5532+6T>C Single submitter epidermolysis bullosa dystrophica
c.5569-11_5569-3del Single submitter epidermolysis bullosa dystrophica
c.5772+1G>A Single submitter
c.6181-2A>G Single submitter epidermolysis bullosa dystrophica
c.6216+2T>G Single submitter
c.6216+5G>T Single submitter
c.6279+1G>T Single submitter
c.6280-2_6281del Single submitter recessive dystrophic epidermolysis bullosa
c.6334_6348+29delinsACATG Single submitter
c.6394-1G>A Single submitter nonsyndromic congenital nail disorder 8
c.6573+5G>A Single submitter recessive dystrophic epidermolysis bullosa
c.6574-1G>C Single submitter epidermolysis bullosa dystrophica
c.6618+1G>A Single submitter epidermolysis bullosa dystrophica
c.6651+1G>A Single submitter
c.6751-1G>C Single submitter
c.6899_6900+6del Single submitter
c.6900+1G>A Single submitter
c.6900+1G>C Single submitter
c.6900+2_6900+5del Single submitter
c.6900+2T>G Single submitter epidermolysis bullosa dystrophica
c.7164+1G>A Single submitter
c.7272+1G>A Single submitter recessive dystrophic epidermolysis bullosa
c.7759-14_7771delinsCCC Single submitter
c.7760del Single submitter recessive dystrophic epidermolysis bullosa
c.7795-2A>G Single submitter recessive dystrophic epidermolysis bullosa
c.7929+2T>C Single submitter epidermolysis bullosa dystrophica
c.7984-2del Single submitter Inborn genetic diseases
c.8047-2A>C Single submitter COL7A1-related disorder
c.8226+1del Single submitter
c.8441-15_8445del Single submitter
c.846+1G>T Single submitter epidermolysis bullosa dystrophica
c.846+2T>G Single submitter
c.8528-1G>C Single submitter
c.86-8C>A Single submitter epidermolysis bullosa dystrophica
c.976+1G>A Single submitter
c.976+50_977-39del Single submitter epidermolysis bullosa dystrophica
c.977-33A>C Single submitter epidermolysis bullosa dystrophica
p.Ala1071fs Single submitter
p.Ala1195fs Single submitter
p.Ala1397fs Single submitter COL7A1-related disorder
p.Ala1799fs Single submitter
p.Ala2115fs Single submitter
p.Ala2887_Tyr2888insTer Single submitter
p.Ala846fs Single submitter
p.Ala927fs Single submitter
p.Arg105fs Single submitter
p.Arg1243fs Single submitter
p.Arg1343fs Single submitter
p.Arg1366fs Single submitter
p.Arg1470fs Single submitter
p.Arg2060fs Single submitter epidermolysis bullosa dystrophica
p.Arg214fs Single submitter
p.Arg2173Ter Single submitter
p.Arg2610fs Single submitter
p.Arg2622fs Single submitter epidermolysis bullosa dystrophica
p.Arg2835fs Single submitter
p.Arg28fs Single submitter
p.Arg33fs Single submitter
p.Arg422fs Single submitter
p.Arg582fs Single submitter
p.Arg843Ter Single submitter
p.Arg910fs Single submitter
p.Asn116fs Single submitter
p.Asn1844fs Single submitter
p.Asp1384fs Single submitter
p.Asp1541fs Single submitter
p.Asp1849fs Single submitter
p.Asp1964fs Single submitter epidermolysis bullosa dystrophica
p.Asp1983fs Single submitter
p.Asp2518fs Single submitter
p.Asp390_Tyr391insTer Single submitter
p.Cys1048Ter Single submitter
p.Cys11fs Single submitter
p.Cys1234Ter Single submitter
p.Cys1251fs Single submitter
p.Cys2904Ter Single submitter
p.Gln1004Ter Single submitter
p.Gln1063Ter Single submitter
p.Gln1092Pro Single submitter epidermolysis bullosa simplex 1A, generalized severe
p.Gln1241Ter Single submitter
p.Gln1286Ter Single submitter
p.Gln1435Ter Single submitter
p.Gln166fs Single submitter
p.Gln166Ter Single submitter
p.Gln1757Ter Single submitter
p.Gln1817Ter Single submitter epidermolysis bullosa dystrophica
p.Gln1886fs Single submitter
p.Gln1924Arg Single submitter epidermolysis bullosa dystrophica ⚠
p.Gln1987Ter Single submitter recessive dystrophic epidermolysis bullosa
p.Gln2014fs Single submitter epidermolysis bullosa dystrophica
p.Gln2107Ter Single submitter
p.Gln2170Ter Single submitter recessive dystrophic epidermolysis bullosa
p.Gln2241Ter Single submitter
p.Gln2249Ter Single submitter epidermolysis bullosa dystrophica
p.Gln2586Ter Single submitter epidermolysis bullosa dystrophica
p.Gln2669Ter Single submitter
p.Gln2690Ter Single submitter
p.Gln2768Ter Single submitter
p.Gln522fs Single submitter
p.Gln641Ter Single submitter
p.Gln783Ter Single submitter
p.Gln83Ter Single submitter
p.Gln906Ter Single submitter epidermolysis bullosa dystrophica
p.Gln908fs Single submitter epidermolysis bullosa dystrophica
p.Gln997Ter Single submitter recessive dystrophic epidermolysis bullosa
p.Glu1039fs Single submitter Abnormality of the skin
p.Glu1297Ter Single submitter
p.Glu1446fs Single submitter
p.Glu1493fs Single submitter
p.Glu1535Ter Single submitter
p.Glu1744fs Single submitter
p.Glu1868Ter Single submitter epidermolysis bullosa simplex 1A, generalized severe
p.Glu2023fs Single submitter

Pathogenic/Likely pathogenic 133

c.1637-1G>A Multiple submitters recessive dystrophic epidermolysis bullosa
c.2587+1G>A Multiple submitters recessive dystrophic epidermolysis bullosa
c.2587+40G>A Multiple submitters epidermolysis bullosa dystrophica
c.266+1G>A Multiple submitters epidermolysis bullosa dystrophica
c.266+2T>C Multiple submitters recessive dystrophic epidermolysis bullosa
c.2710+2T>C Multiple submitters epidermolysis bullosa dystrophica
c.3551-3T>G Multiple submitters epidermolysis bullosa dystrophica
c.3831+1G>T Multiple submitters recessive dystrophic epidermolysis bullosa
c.3832_3833del Multiple submitters nonsyndromic congenital nail disorder 8
c.3894+1G>A Multiple submitters transient bullous dermolysis of the newborn
c.4011+1G>A Multiple submitters epidermolysis bullosa dystrophica
c.4120-1G>C Multiple submitters transient bullous dermolysis of the newborn
c.4197+1G>T Multiple submitters epidermolysis bullosa dystrophica
c.4531_4564-42del Multiple submitters
c.4635+1G>A Multiple submitters recessive dystrophic epidermolysis bullosa
c.4668+1G>A Multiple submitters
c.520+1G>T Multiple submitters epidermolysis bullosa dystrophica
c.5304_5307+1del Multiple submitters nonsyndromic congenital nail disorder 8
c.5532+1G>A Multiple submitters epidermolysis bullosa dystrophica
c.6216+1G>A Multiple submitters transient bullous dermolysis of the newborn
c.6501+1G>C Multiple submitters transient bullous dermolysis of the newborn
c.6619-2A>T Multiple submitters epidermolysis bullosa dystrophica
c.682+1G>A Multiple submitters COL7A1-related disorder
c.7023+1G>A Multiple submitters epidermolysis bullosa dystrophica
c.7104+3A>T Multiple submitters recessive dystrophic epidermolysis bullosa
c.7104+5G>A Multiple submitters epidermolysis bullosa dystrophica
c.7344+1G>T Multiple submitters epidermolysis bullosa dystrophica
c.7485+5G>A Multiple submitters COL7A1-related disorder
c.7796dup Multiple submitters epidermolysis bullosa dystrophica
c.8227-1G>A Multiple submitters nonsyndromic congenital nail disorder 8
c.8304+1G>A Multiple submitters recessive dystrophic epidermolysis bullosa
c.8528-1G>A Multiple submitters nonsyndromic congenital nail disorder 8
c.977-1G>C Multiple submitters epidermolysis bullosa
p.Ala121fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Ala1503fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Ala2903fs Multiple submitters epidermolysis bullosa dystrophica
p.Arg1730Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Arg1772Trp Multiple submitters pretibial dystrophic epidermolysis bullosa ⚠
p.Arg1814Cys Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Arg2008Cys Multiple submitters pretibial dystrophic epidermolysis bullosa ⚠
p.Arg2008His Multiple submitters dystrophic epidermolysis bullosa pruriginosa ⚠
p.Arg2069Cys Multiple submitters generalized dominant dystrophic epidermolysis bullosa ⚠
p.Arg20Ter Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Arg2541Ter Multiple submitters epidermolysis bullosa dystrophica
p.Arg2580Cys Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Arg2622Gln Multiple submitters generalized dominant dystrophic epidermolysis bullosa ⚠
p.Arg2622Trp Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Arg2628Trp Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Arg2777Ter Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Arg613Ter Multiple submitters nonsyndromic congenital nail disorder 8
p.Cys2929Phe Multiple submitters recessive dystrophic epidermolysis bullosa
p.Cys2929Tyr Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gln1089Ter Multiple submitters transient bullous dermolysis of the newborn
p.Gln1235Ter Multiple submitters epidermolysis bullosa dystrophica
p.Gln1886Ter Multiple submitters dystrophic epidermolysis bullosa pruriginosa
p.Gln189Ter Multiple submitters epidermolysis bullosa dystrophica
p.Gln522Ter Multiple submitters nonsyndromic congenital nail disorder 8
p.Gln662Ter Multiple submitters nonsyndromic congenital nail disorder 8
p.Glu1451fs Multiple submitters epidermolysis bullosa dystrophica
p.Glu1555_Lys1556delinsAspGly Multiple submitters epidermolysis bullosa dystrophica
p.Glu1923fs Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Glu2059Gly Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Glu282= Multiple submitters recessive dystrophic epidermolysis bullosa
p.Glu2848fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Glu2857Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1284Ser Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Gly1314Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly1338Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1347Trp Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1383Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly1395fs Multiple submitters epidermolysis bullosa dystrophica
p.Gly1480Asp Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1483Asp Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Gly1655= Multiple submitters COL7A1-related disorder
p.Gly1676Glu Multiple submitters
p.Gly1703Ter Multiple submitters nonsyndromic congenital nail disorder 8
p.Gly174Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly1773Val Multiple submitters COL7A1-related disorder
p.Gly1854Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2006Ala Multiple submitters epidermolysis bullosa ⚠
p.Gly2009Glu Multiple submitters nonsyndromic congenital nail disorder 8
p.Gly2028fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Gly2034Ala Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Gly2037Glu Multiple submitters dystrophic epidermolysis bullosa pruriginosa
p.Gly2043Glu Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2049Glu Multiple submitters epidermolysis bullosa dystrophica
p.Gly2073Cys Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2132Asp Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2213Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly2254Arg Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2257Ala Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Gly2257Arg Multiple submitters
p.Gly2263Asp Multiple submitters epidermolysis bullosa dystrophica
p.Gly2330Asp Multiple submitters nonsyndromic congenital nail disorder 8
p.Gly2339= Multiple submitters epidermolysis bullosa dystrophica
p.Gly2366Ala Multiple submitters nonsyndromic congenital nail disorder 8 ⚠
p.Gly2366Val Multiple submitters epidermolysis bullosa dystrophica
p.Gly2372Val Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Gly2374Arg Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Gly2434Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly2481Asp Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2502Glu Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2517_Asp2518insTer Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2551Arg Multiple submitters epidermolysis bullosa dystrophica
p.Gly2704Glu Multiple submitters
p.Gly2719Ala Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Gly2722Asp Multiple submitters COL7A1-related disorder
p.Gly2740Ala Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2749Glu Multiple submitters epidermolysis bullosa dystrophica
p.Leu1324fs Multiple submitters epidermolysis bullosa dystrophica
p.Leu2576Ter Multiple submitters recessive dystrophic epidermolysis bullosa
p.Leu432fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Leu822fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Lys1556fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Met2798Lys Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Phe1213fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Pro1104fs Multiple submitters epidermolysis bullosa dystrophica
p.Pro1277fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Pro1523fs Multiple submitters recessive dystrophic epidermolysis bullosa
p.Pro1648fs Multiple submitters epidermolysis bullosa dystrophica
p.Pro1699Leu Multiple submitters generalized dominant dystrophic epidermolysis bullosa ⚠
p.Pro1940= Multiple submitters epidermolysis bullosa dystrophica
p.Pro2167= Multiple submitters nonsyndromic congenital nail disorder 8
p.Pro2450fs Multiple submitters
p.Pro530fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Ser111_Tyr112insTer Multiple submitters recessive dystrophic epidermolysis bullosa
p.Ser47fs Multiple submitters epidermolysis bullosa dystrophica
p.Ser935fs Multiple submitters epidermolysis bullosa dystrophica
p.Thr326fs Multiple submitters epidermolysis bullosa dystrophica
p.Trp435Ter Multiple submitters epidermolysis bullosa dystrophica
p.Trp900Ter Multiple submitters nonsyndromic congenital nail disorder 8
p.Val126fs Multiple submitters epidermolysis bullosa dystrophica
p.Val2448= Multiple submitters COL7A1-related disorder

Likely pathogenic 362

Showing the top 300 by review status; the full set is in the sitemap.

c.1240+1G>T Multiple submitters nonsyndromic congenital nail disorder 8
c.1906+1G>T Multiple submitters nonsyndromic congenital nail disorder 8
c.2171-2A>G Multiple submitters recessive dystrophic epidermolysis bullosa
c.2993-2A>G Multiple submitters pretibial dystrophic epidermolysis bullosa
c.3139+1G>A Multiple submitters epidermolysis bullosa dystrophica
c.3975+2T>A Multiple submitters COL7A1-related disorder
c.4438-1G>C Multiple submitters epidermolysis bullosa dystrophica
c.4438-2A>G Multiple submitters epidermolysis bullosa dystrophica
c.4483-1G>A Multiple submitters nonsyndromic congenital nail disorder 8
c.4519-2A>C Multiple submitters epidermolysis bullosa dystrophica
c.4519-2del Multiple submitters epidermolysis bullosa dystrophica
c.5124+2T>C Multiple submitters recessive dystrophic epidermolysis bullosa
c.5271+1G>A Multiple submitters
c.5389-2_5389-1del Multiple submitters epidermolysis bullosa dystrophica
c.5737-2A>G Multiple submitters nonsyndromic congenital nail disorder 8
c.6217-2A>G Multiple submitters recessive dystrophic epidermolysis bullosa
c.6349-2del Multiple submitters recessive dystrophic epidermolysis bullosa
c.6502-1G>A Multiple submitters epidermolysis bullosa dystrophica
c.6502-2A>G Multiple submitters epidermolysis bullosa dystrophica
c.6652-2A>G Multiple submitters recessive dystrophic epidermolysis bullosa
c.7104+1G>A Multiple submitters pretibial dystrophic epidermolysis bullosa
c.7344+1G>A Multiple submitters nonsyndromic congenital nail disorder 8
c.7521+1G>A Multiple submitters
c.7557+1G>T Multiple submitters recessive dystrophic epidermolysis bullosa
c.7558-1G>A Multiple submitters generalized dominant dystrophic epidermolysis bullosa
c.7615-2A>T Multiple submitters recessive dystrophic epidermolysis bullosa
c.8305-2A>C Multiple submitters epidermolysis bullosa dystrophica
p.Arg2745Gln Multiple submitters nonsyndromic congenital nail disorder 8 ⚠
p.Asn2915fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Glu302Ter Multiple submitters epidermolysis bullosa dystrophica
p.Gly1569Arg Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Gly1604Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1815Glu Multiple submitters epidermolysis bullosa dystrophica
p.Gly1922Glu Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly1928Glu Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1982Glu Multiple submitters nonsyndromic congenital nail disorder 8
p.Gly2006Asp Multiple submitters epidermolysis bullosa dystrophica
p.Gly2114Val Multiple submitters epidermolysis bullosa dystrophica
p.Gly2233Asp Multiple submitters epidermolysis bullosa dystrophica
p.Gly2233fs Multiple submitters nonsyndromic congenital nail disorder 8
p.Gly2251Glu Multiple submitters epidermolysis bullosa dystrophica
p.Gly2263Val Multiple submitters epidermolysis bullosa dystrophica
p.Gly2517Asp Multiple submitters epidermolysis bullosa dystrophica
p.Gly2575Trp Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly2647Ser Multiple submitters nonsyndromic congenital nail disorder 8 ⚠
p.Gly2775Asp Multiple submitters epidermolysis bullosa dystrophica
p.Pro1699= Multiple submitters pretibial dystrophic epidermolysis bullosa
c.1093+1G>A Single submitter
c.1094-7_1101del Single submitter
c.1240+2T>A Single submitter
c.1357+1G>T Single submitter nonsyndromic congenital nail disorder 8
c.1357+2T>A Single submitter
c.1358-2A>G Single submitter
c.1507+4A>T Single submitter recessive dystrophic epidermolysis bullosa
c.1780+1G>T Single submitter
c.1781-2A>G Single submitter
c.1907-2A>G Single submitter
c.2171-1G>A Single submitter
c.2171-2A>T Single submitter
c.2308_2314+1del Single submitter recessive dystrophic epidermolysis bullosa
c.2314+2T>G Single submitter transient bullous dermolysis of the newborn
c.2315-11_2316del Single submitter
c.2440+2T>C Single submitter nonsyndromic congenital nail disorder 8
c.2582_2587+1del Single submitter
c.2587+2T>C Single submitter
c.2711-1G>C Single submitter recessive dystrophic epidermolysis bullosa
c.2858-1G>A Single submitter recessive dystrophic epidermolysis bullosa
c.2993-1G>C Single submitter
c.3139+1G>C Single submitter
c.3276+1G>A Single submitter recessive dystrophic epidermolysis bullosa
c.3723+1G>A Single submitter
c.3759+1G>A Single submitter
c.3760-1G>A Single submitter
c.3786+1G>A Single submitter
c.3787-2A>G Single submitter
c.3831+1G>A Single submitter epidermolysis bullosa dystrophica
c.3831+2T>C Single submitter
c.3894+2T>C Single submitter nonsyndromic congenital nail disorder 8
c.3895-34_3905del Single submitter
c.3975+1G>T Single submitter
c.3975+2T>G Single submitter
c.3976-2A>G Single submitter epidermolysis bullosa dystrophica
c.4012-2A>C Single submitter
c.4047+2T>C Single submitter
c.4048-2A>G Single submitter
c.4120-1G>A Single submitter epidermolysis bullosa dystrophica
c.4198-1G>A Single submitter recessive dystrophic epidermolysis bullosa
c.4199del Single submitter recessive dystrophic epidermolysis bullosa
c.4224+1G>A Single submitter
c.4278+1G>A Single submitter
c.4278+2T>C Single submitter
c.4279-1G>A Single submitter
c.4341+2T>C Single submitter
c.4401+2T>A Single submitter
c.4402-5_4402-2del Single submitter
c.4437+1G>C Single submitter
c.4437+2T>G Single submitter
c.4564-2A>C Single submitter
c.4599+2T>C Single submitter
c.4600-1G>A Single submitter
c.462_520+17del Single submitter
c.4636-1G>A Single submitter
c.4636-2A>G Single submitter
c.4668+1G>C Single submitter
c.4724del Single submitter epidermolysis bullosa dystrophica
c.4782+1G>A Single submitter recessive dystrophic epidermolysis bullosa
c.4783-1_4783delinsAA Single submitter epidermolysis bullosa dystrophica
c.4818+1G>C Single submitter
c.4818+3_4818+6dup Single submitter
c.4899+1G>C Single submitter epidermolysis bullosa dystrophica
c.4900-1G>A Single submitter epidermolysis bullosa dystrophica
c.4900-1G>C Single submitter
c.4900-2A>C Single submitter
c.4900-2A>G Single submitter
c.4936-1G>A Single submitter
c.5052+1G>A Single submitter
c.5053-2A>G Single submitter generalized dominant dystrophic epidermolysis bullosa
c.5053-5_5055dup Single submitter recessive dystrophic epidermolysis bullosa
c.5125-2A>T Single submitter
c.520+1G>C Single submitter
c.521-2A>G Single submitter
c.521-6_521-1del Single submitter
c.5235+1G>C Single submitter
c.5272-1G>T Single submitter
c.5307+1G>A Single submitter
c.5388+2T>C Single submitter nonsyndromic congenital nail disorder 8
c.5424+1G>A Single submitter
c.5425-1G>A Single submitter transient bullous dermolysis of the newborn
c.5529_5532+7del Single submitter
c.5532+4_5532+5del Single submitter epidermolysis bullosa dystrophica
c.5532+4_5532+7del Single submitter
c.5533-1G>C Single submitter epidermolysis bullosa dystrophica
c.5568+1G>A Single submitter
c.5604+2T>C Single submitter
c.5605-2_5605-1del Single submitter epidermolysis bullosa dystrophica
c.5736+1G>A Single submitter nonsyndromic congenital nail disorder 8
c.5737-1G>A Single submitter
c.5773-1G>A Single submitter epidermolysis bullosa dystrophica
c.5820+1G>C Single submitter
c.5820+2T>C Single submitter
c.5821-2A>G Single submitter
c.5979+1G>A Single submitter
c.6181-1G>T Single submitter
c.6181-25_6181del Single submitter generalized dominant dystrophic epidermolysis bullosa
c.6217-2del Single submitter
c.6393+1G>C Single submitter
c.6393+2T>C Single submitter recessive dystrophic epidermolysis bullosa
c.6394-1G>C Single submitter
c.6456+1G>C Single submitter
c.6456+2T>C Single submitter
c.6489_6501+26del Single submitter
c.6522_6537+1del Single submitter nonsyndromic congenital nail disorder 8
c.6537+1G>A Single submitter
c.6538-2A>C Single submitter
c.6574-2A>G Single submitter recessive dystrophic epidermolysis bullosa
c.6619-1G>C Single submitter epidermolysis bullosa dystrophica
c.6715-2_6715-1del Single submitter epidermolysis bullosa dystrophica
c.6750+1G>A Single submitter
c.682+1G>T Single submitter COL7A1-related disorder
c.683-1G>A Single submitter
c.6831+60_6877del Single submitter
c.6832-1G>C Single submitter epidermolysis bullosa dystrophica
c.6832-1G>T Single submitter
c.6832-2A>G Single submitter
c.6900+4A>G Single submitter generalized dominant dystrophic epidermolysis bullosa
c.6901-5_6903del Single submitter
c.6936+1G>C Single submitter
c.6936+2T>C Single submitter pretibial dystrophic epidermolysis bullosa
c.7068+2_7068+3del Single submitter
c.7068+2T>C Single submitter
c.7068+2T>G Single submitter
c.7266_7272+6del Single submitter
c.7344+1G>C Single submitter
c.7344+2T>C Single submitter
c.7345-1G>A Single submitter
c.7345-1G>T Single submitter nonsyndromic congenital nail disorder 8
c.7345-2A>G Single submitter nonsyndromic congenital nail disorder 8
c.7437_7440+4del Single submitter
c.7440+1G>A Single submitter
c.7521+2T>C Single submitter recessive dystrophic epidermolysis bullosa
c.7615-1G>A Single submitter
c.7686+1G>C Single submitter nonsyndromic congenital nail disorder 8
c.7686+2T>C Single submitter nonsyndromic congenital nail disorder 8
c.7758+2C>A Single submitter
c.7759-2A>G Single submitter
c.7789_7794+2del Single submitter
c.7875+1G>C Single submitter
c.7875+1G>T Single submitter
c.7929+1G>A Single submitter
c.7930-1G>T Single submitter
c.7930-2A>G Single submitter recessive dystrophic epidermolysis bullosa
c.7983+1G>C Single submitter
c.7984-1G>T Single submitter
c.7987dup Single submitter epidermolysis bullosa dystrophica
c.8043_8046+4del Single submitter dystrophic epidermolysis bullosa pruriginosa
c.8046+3A>G Single submitter
c.8047-1G>A Single submitter nonsyndromic congenital nail disorder 8
c.8109+1G>T Single submitter transient bullous dermolysis of the newborn
c.8221_8226+1del Single submitter
c.8226+1G>C Single submitter recessive dystrophic epidermolysis bullosa
c.8226+1G>T Single submitter
c.8227-1G>C Single submitter
c.8408-7_8419del Single submitter
c.8440+1G>A Single submitter epidermolysis bullosa dystrophica
c.8441-1G>A Single submitter
c.847-1_847delinsCA Single submitter
c.86-1G>A Single submitter
c.977-2A>T Single submitter
c.-187C>T Single submitter epidermolysis bullosa dystrophica
p.Ala765fs Single submitter nonsyndromic congenital nail disorder 8
p.Arg1574fs Single submitter
p.Arg1814Gly Single submitter ⚠
p.Arg1957Gly Single submitter ⚠
p.Arg2008Leu Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Arg2008Pro Single submitter ⚠
p.Arg2063Gly Single submitter transient bullous dermolysis of the newborn ⚠
p.Arg22Ter Single submitter epidermolysis bullosa dystrophica
p.Arg28Gly Single submitter ⚠
p.Arg2922fs Single submitter epidermolysis bullosa dystrophica
p.Arg78fs Single submitter epidermolysis bullosa dystrophica
p.Asn337fs Single submitter epidermolysis bullosa dystrophica
p.Asp1064fs Single submitter
p.Asp1336fs Single submitter epidermolysis bullosa dystrophica
p.Asp1641fs Single submitter epidermolysis bullosa dystrophica
p.Asp2537fs Single submitter epidermolysis bullosa dystrophica
p.Asp2637fs Single submitter epidermolysis bullosa dystrophica
p.Asp44Asn Single submitter epidermolysis bullosa dystrophica
p.Cys2876Arg Single submitter
p.Cys2876Phe Single submitter epidermolysis bullosa dystrophica
p.Gln1155Ter Single submitter epidermolysis bullosa dystrophica
p.Gln1199Ter Single submitter recessive dystrophic epidermolysis bullosa
p.Gln1241fs Single submitter epidermolysis bullosa dystrophica
p.Gln134Ter Single submitter epidermolysis bullosa dystrophica
p.Gln153Ter Single submitter
p.Gln1987fs Single submitter nonsyndromic congenital nail disorder 8
p.Gln2170fs Single submitter epidermolysis bullosa dystrophica
p.Gln304Ter Single submitter epidermolysis bullosa dystrophica
p.Gln656fs Single submitter epidermolysis bullosa dystrophica
p.Glu1496Ter Single submitter epidermolysis bullosa dystrophica
p.Glu1975Ter Single submitter epidermolysis bullosa dystrophica
p.Glu2118Ter Single submitter nonsyndromic congenital nail disorder 8
p.Glu2311Ter Single submitter epidermolysis bullosa dystrophica
p.Gly1299Val Single submitter nonsyndromic congenital nail disorder 8
p.Gly1326Val Single submitter recessive dystrophic epidermolysis bullosa
p.Gly1329Glu Single submitter nonsyndromic congenital nail disorder 8
p.Gly1347Ala Single submitter ⚠
p.Gly1412fs Single submitter epidermolysis bullosa dystrophica
p.Gly1442fs Single submitter
p.Gly1489Asp Single submitter recessive dystrophic epidermolysis bullosa
p.Gly1507Val Single submitter recessive dystrophic epidermolysis bullosa
p.Gly1519Asp Single submitter epidermolysis bullosa dystrophica
p.Gly1525Glu Single submitter
p.Gly1534Arg Single submitter
p.Gly1534Glu Single submitter generalized dominant dystrophic epidermolysis bullosa
p.Gly1604fs Single submitter epidermolysis bullosa dystrophica
p.Gly1616Arg Single submitter recessive dystrophic epidermolysis bullosa
p.Gly1622Arg Single submitter
p.Gly1622Ser Single submitter ⚠
p.Gly1625fs Single submitter nonsyndromic congenital nail disorder 8
p.Gly1631Glu Single submitter nonsyndromic congenital nail disorder 8
p.Gly1652Arg Single submitter
p.Gly1661Arg Single submitter
p.Gly1673Arg Single submitter recessive dystrophic epidermolysis bullosa
p.Gly1673Glu Single submitter generalized dominant dystrophic epidermolysis bullosa
p.Gly1700Val Single submitter generalized dominant dystrophic epidermolysis bullosa ⚠
p.Gly1839Asp Single submitter
p.Gly1890Ser Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly1907Ter Single submitter epidermolysis bullosa dystrophica
p.Gly1913Val Single submitter generalized dominant dystrophic epidermolysis bullosa
p.Gly1916Arg Single submitter
p.Gly1919Ala Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly1922Val Single submitter dystrophic epidermolysis bullosa pruriginosa
p.Gly2012Arg Single submitter
p.Gly2012Val Single submitter transient bullous dermolysis of the newborn
p.Gly2025Asp Single submitter epidermolysis bullosa dystrophica
p.Gly2031Val Single submitter
p.Gly2049Val Single submitter
p.Gly2058Glu Single submitter
p.Gly2058Ter Single submitter nonsyndromic congenital nail disorder 8
p.Gly2064Ala Single submitter ⚠
p.Gly2064fs Single submitter nonsyndromic congenital nail disorder 8
p.Gly2070Val Single submitter generalized dominant dystrophic epidermolysis bullosa
p.Gly2073Val Single submitter epidermolysis bullosa dystrophica
p.Gly2076Ser Single submitter ⚠
p.Gly2079Lys Single submitter generalized dominant dystrophic epidermolysis bullosa
p.Gly2114Ala Single submitter ⚠
p.Gly2114Ser Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly2129Arg Single submitter nonsyndromic congenital nail disorder 8
p.Gly2159Val Single submitter
p.Gly2177Asp Single submitter
p.Gly2189Val Single submitter epidermolysis bullosa dystrophica
p.Gly2213Glu Single submitter transient bullous dermolysis of the newborn
p.Gly2218Ala Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2245Asp Single submitter recessive dystrophic epidermolysis bullosa
p.Gly2257Val Single submitter epidermolysis bullosa dystrophica
p.Gly2272Ala Single submitter ⚠
p.Gly2333Arg Single submitter nonsyndromic congenital nail disorder 8
p.Gly2342Asp Single submitter recessive dystrophic epidermolysis bullosa
p.Gly2357Arg Single submitter recessive dystrophic epidermolysis bullosa
p.Gly2357Asp Single submitter

Conflicting classifications of pathogenicity 354

Showing the top 300 by review status; the full set is in the sitemap.

c.1241-5G>A Single submitter
c.1357+8C>A Single submitter epidermolysis bullosa dystrophica
c.2993-13C>G Single submitter epidermolysis bullosa dystrophica
c.3551-5C>T Single submitter epidermolysis bullosa dystrophica
c.3724-4G>A Single submitter epidermolysis bullosa dystrophica
c.3760-10C>G Single submitter epidermolysis bullosa dystrophica
c.4048-15T>A Single submitter epidermolysis bullosa dystrophica
c.4119+11G>A Single submitter epidermolysis bullosa dystrophica
c.427-14T>C Single submitter epidermolysis bullosa dystrophica
c.4635+5G>A Single submitter recessive dystrophic epidermolysis bullosa
c.4723-2A>C Single submitter
c.4782+9A>T Single submitter epidermolysis bullosa dystrophica
c.4818+11G>A Single submitter epidermolysis bullosa dystrophica
c.4818+18T>A Single submitter dystrophic epidermolysis bullosa pruriginosa
c.4899+31G>A Single submitter epidermolysis bullosa dystrophica
c.5098-5C>T Single submitter epidermolysis bullosa dystrophica
c.520+9C>T Single submitter epidermolysis bullosa dystrophica
c.5271+8A>G Single submitter epidermolysis bullosa dystrophica
c.5425-6_5425-5del Single submitter
c.5605-14T>C Single submitter epidermolysis bullosa dystrophica
c.5605-15C>T Single submitter epidermolysis bullosa dystrophica
c.5772+11C>T Single submitter epidermolysis bullosa dystrophica
c.6181-4del Single submitter
c.6394-9T>C Single submitter epidermolysis bullosa dystrophica
c.6502-10C>G Single submitter epidermolysis bullosa dystrophica
c.682+5G>A Single submitter recessive dystrophic epidermolysis bullosa
c.6832-3T>C Single submitter
c.6978+8G>A Single submitter epidermolysis bullosa dystrophica
c.7068+5G>A Single submitter epidermolysis bullosa dystrophica
c.7164+10T>C Single submitter epidermolysis bullosa dystrophica
c.7272+5G>A Single submitter epidermolysis bullosa dystrophica
c.7380+8G>A Single submitter epidermolysis bullosa dystrophica
c.7381-20G>A Single submitter
c.7521+9G>A Single submitter epidermolysis bullosa dystrophica
c.7686+9A>G Single submitter epidermolysis bullosa dystrophica
c.7758+10G>A Single submitter epidermolysis bullosa dystrophica
c.8227-9G>A Single submitter epidermolysis bullosa dystrophica
c.8359-17T>A Single submitter
c.8407+10G>A Single submitter epidermolysis bullosa dystrophica
c.8528-45G>A Single submitter recessive dystrophic epidermolysis bullosa
c.8818+2T>A Single submitter nonsyndromic congenital nail disorder 8
p.Ala1053Val Single submitter Inborn genetic diseases ⚠
p.Ala1061Val Single submitter Inborn genetic diseases
p.Ala1071Ser Single submitter Inborn genetic diseases ⚠
p.Ala1071Thr Single submitter Inborn genetic diseases ⚠
p.Ala1204Val Single submitter Inborn genetic diseases
p.Ala1503= Single submitter epidermolysis bullosa dystrophica
p.Ala1562Pro Single submitter Inborn genetic diseases ⚠
p.Ala172Val Single submitter Inborn genetic diseases ⚠
p.Ala1790Pro Single submitter Inborn genetic diseases ⚠
p.Ala1790Thr Single submitter epidermolysis bullosa dystrophica ⚠
p.Ala2399Val Single submitter epidermolysis bullosa dystrophica ⚠
p.Ala254Val Single submitter epidermolysis bullosa dystrophica ⚠
p.Ala2810Thr Single submitter Inborn genetic diseases ⚠
p.Ala312Thr Single submitter Inborn genetic diseases ⚠
p.Ala927Val Single submitter Inborn genetic diseases ⚠
p.Ala9Val Single submitter Inborn genetic diseases ⚠
p.Arg1036Trp Single submitter Inborn genetic diseases ⚠
p.Arg1068Cys Single submitter Inborn genetic diseases
p.Arg1068His Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Arg1078Cys Single submitter epidermolysis bullosa dystrophica
p.Arg1078His Single submitter Inborn genetic diseases ⚠
p.Arg1122Cys Single submitter Inborn genetic diseases
p.Arg1122His Single submitter Inborn genetic diseases ⚠
p.Arg1202His Single submitter epidermolysis bullosa dystrophica
p.Arg1306His Single submitter Inborn genetic diseases
p.Arg1334Cys Single submitter epidermolysis bullosa dystrophica
p.Arg1334His Single submitter Inborn genetic diseases ⚠
p.Arg1334Leu Single submitter Inborn genetic diseases
p.Arg1388His Single submitter Inborn genetic diseases
p.Arg1408Trp Single submitter generalized dominant dystrophic epidermolysis bullosa
p.Arg1470Trp Single submitter Inborn genetic diseases
p.Arg1482Gln Single submitter Inborn genetic diseases ⚠
p.Arg1514His Single submitter Inborn genetic diseases
p.Arg1529Cys Single submitter epidermolysis bullosa dystrophica
p.Arg1574Gln Single submitter Inborn genetic diseases ⚠
p.Arg1630Gln Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg1632Gln Single submitter ⚠
p.Arg1660Pro Single submitter Inborn genetic diseases
p.Arg1660Trp Single submitter pretibial dystrophic epidermolysis bullosa ⚠
p.Arg1696Cys Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg1724His Single submitter Inborn genetic diseases ⚠
p.Arg1814His Single submitter
p.Arg1870His Single submitter ⚠
p.Arg1944Trp Single submitter recessive dystrophic epidermolysis bullosa
p.Arg1957Gln Single submitter nonsyndromic congenital nail disorder 8
p.Arg1976Gln Single submitter Inborn genetic diseases
p.Arg1976Trp Single submitter epidermolysis bullosa dystrophica
p.Arg1977Cys Single submitter recessive dystrophic epidermolysis bullosa
p.Arg1977Leu Single submitter epidermolysis bullosa dystrophica
p.Arg2002His Single submitter
p.Arg20Pro Single submitter epidermolysis bullosa dystrophica
p.Arg213Gln Single submitter Inborn genetic diseases
p.Arg2158His Single submitter Inborn genetic diseases
p.Arg2217Gln Single submitter ⚠
p.Arg2217Trp Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Arg226Gln Single submitter Inborn genetic diseases ⚠
p.Arg2332Gln Single submitter Inborn genetic diseases ⚠
p.Arg2346His Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg2703Trp Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg2770Leu Single submitter Inborn genetic diseases
p.Arg2791Trp Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg2795His Single submitter Inborn genetic diseases
p.Arg28= Single submitter epidermolysis bullosa dystrophica
p.Arg280Gln Single submitter Inborn genetic diseases ⚠
p.Arg2835Cys Single submitter Inborn genetic diseases
p.Arg2835His Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg2844Trp Single submitter ⚠
p.Arg2895Gln Single submitter recessive dystrophic epidermolysis bullosa
p.Arg2927Cys Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg2927His Single submitter generalized dominant dystrophic epidermolysis bullosa ⚠
p.Arg2928His Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg298Gln Single submitter Inborn genetic diseases ⚠
p.Arg348Gln Single submitter Inborn genetic diseases ⚠
p.Arg357His Single submitter epidermolysis bullosa dystrophica
p.Arg383Cys Single submitter Inborn genetic diseases ⚠
p.Arg442Cys Single submitter Inborn genetic diseases ⚠
p.Arg442His Single submitter ⚠
p.Arg445Gln Single submitter ⚠
p.Arg449Trp Single submitter Inborn genetic diseases ⚠
p.Arg450Cys Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg450His Single submitter Inborn genetic diseases ⚠
p.Arg468Cys Single submitter Inborn genetic diseases
p.Arg51Gly Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Arg525Gln Single submitter Inborn genetic diseases ⚠
p.Arg538Cys Single submitter
p.Arg538His Single submitter epidermolysis bullosa dystrophica
p.Arg542His Single submitter Inborn genetic diseases
p.Arg549Trp Single submitter ⚠
p.Arg574Gly Single submitter Inborn genetic diseases
p.Arg574Trp Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Arg582Cys Single submitter Inborn genetic diseases ⚠
p.Arg605Trp Single submitter Inborn genetic diseases ⚠
p.Arg613Gln Single submitter Inborn genetic diseases ⚠
p.Arg628Trp Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Arg682Gln Single submitter Inborn genetic diseases ⚠
p.Arg716Gly Single submitter Inborn genetic diseases
p.Arg778His Single submitter Inborn genetic diseases
p.Arg778Pro Single submitter Inborn genetic diseases
p.Arg811Trp Single submitter Inborn genetic diseases ⚠
p.Arg910Trp Single submitter Inborn genetic diseases ⚠
p.Arg931Cys Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg956His Single submitter Inborn genetic diseases ⚠
p.Arg963His Single submitter epidermolysis bullosa dystrophica ⚠
p.Arg990Gln Single submitter pretibial dystrophic epidermolysis bullosa ⚠
p.Asn1315fs Single submitter dystrophic epidermolysis bullosa pruriginosa
p.Asn1841Lys Single submitter Inborn genetic diseases ⚠
p.Asp1273Ala Single submitter Inborn genetic diseases ⚠
p.Asp1404Asn Single submitter Inborn genetic diseases
p.Asp1452Val Single submitter Inborn genetic diseases
p.Asp149= Single submitter epidermolysis bullosa dystrophica
p.Asp1677_Pro1678insGlnGlyAsp Single submitter recessive dystrophic epidermolysis bullosa
p.Asp2130Asn Single submitter Inborn genetic diseases
p.Asp2270His Single submitter Inborn genetic diseases
p.Asp2558= Single submitter recessive dystrophic epidermolysis bullosa
p.Asp2637Glu Single submitter Inborn genetic diseases
p.Asp2688= Single submitter epidermolysis bullosa dystrophica
p.Asp2871Asn Single submitter epidermolysis bullosa dystrophica ⚠
p.Asp646His Single submitter Inborn genetic diseases ⚠
p.Asp850Asn Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Cys1251= Single submitter epidermolysis bullosa dystrophica
p.Cys2885Tyr Single submitter Inborn genetic diseases ⚠
p.Gln1924= Single submitter epidermolysis bullosa dystrophica
p.Gln2669His Single submitter Inborn genetic diseases
p.Gln2935Ter Single submitter dystrophic epidermolysis bullosa pruriginosa
p.Gln662Arg Single submitter Inborn genetic diseases ⚠
p.Glu1496Lys Single submitter Inborn genetic diseases
p.Glu181= Single submitter epidermolysis bullosa dystrophica
p.Glu1858Lys Single submitter epidermolysis bullosa dystrophica
p.Glu1923= Single submitter epidermolysis bullosa dystrophica
p.Glu1975fs Single submitter recessive dystrophic epidermolysis bullosa
p.Glu1986Lys Single submitter Inborn genetic diseases ⚠
p.Glu242Lys Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Glu2473Lys Single submitter
p.Glu2699Lys Single submitter epidermolysis bullosa dystrophica
p.Glu2736Lys Single submitter pretibial dystrophic epidermolysis bullosa
p.Glu2764Lys Single submitter epidermolysis bullosa dystrophica
p.Glu2857Lys Single submitter Inborn genetic diseases ⚠
p.Glu672Asp Single submitter Inborn genetic diseases ⚠
p.Glu813Lys Single submitter Inborn genetic diseases ⚠
p.Glu835Lys Single submitter Inborn genetic diseases ⚠
p.Glu888Gln Single submitter epidermolysis bullosa dystrophica ⚠
p.Gly1115Arg Single submitter Inborn genetic diseases ⚠
p.Gly114Val Single submitter epidermolysis bullosa dystrophica ⚠
p.Gly1281Ser Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly1311Ala Single submitter epidermolysis bullosa dystrophica ⚠
p.Gly1368Arg Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly1424Glu Single submitter Inborn genetic diseases ⚠
p.Gly1495= Single submitter epidermolysis bullosa dystrophica
p.Gly1495Val Single submitter ⚠
p.Gly1498Arg Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly1519Ser Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly1554Glu Single submitter
p.Gly1575Cys Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly1598Ala Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly1722Glu Single submitter ⚠
p.Gly1725Arg Single submitter transient bullous dermolysis of the newborn ⚠
p.Gly1734= Single submitter epidermolysis bullosa dystrophica
p.Gly1764Ala Single submitter ⚠
p.Gly1794Glu Single submitter epidermolysis bullosa dystrophica ⚠
p.Gly1866Ala Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly1869Arg Single submitter epidermolysis bullosa dystrophica ⚠
p.Gly2000Arg Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2015Val Single submitter epidermolysis bullosa dystrophica ⚠
p.Gly2031Ser Single submitter generalized dominant dystrophic epidermolysis bullosa ⚠
p.Gly2049Arg Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly2114Asp Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly2147Val Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2150Ser Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly221= Single submitter epidermolysis bullosa dystrophica
p.Gly2221Glu Single submitter ⚠
p.Gly2224Arg Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2254Glu Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly2287= Single submitter epidermolysis bullosa dystrophica
p.Gly2317Ser Single submitter ⚠
p.Gly2333Val Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2354Arg Single submitter ⚠
p.Gly2369Asp Single submitter ⚠
p.Gly2369Ser Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly2372Glu Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly2419Ser Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly2455Arg Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2472= Single submitter generalized dominant dystrophic epidermolysis bullosa
p.Gly2472Ser Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly2487Ser Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2527= Single submitter epidermolysis bullosa dystrophica
p.Gly2527Arg Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2527Glu Single submitter epidermolysis bullosa dystrophica ⚠
p.Gly2629Arg Single submitter epidermolysis bullosa dystrophica ⚠
p.Gly2656Val Single submitter ⚠
p.Gly2659Glu Single submitter generalized dominant dystrophic epidermolysis bullosa ⚠
p.Gly2665Ala Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2668Ala Single submitter nonsyndromic congenital nail disorder 8 ⚠
p.Gly2743Ser Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Gly2760= Single submitter epidermolysis bullosa dystrophica
p.Gly2825Ser Single submitter Inborn genetic diseases ⚠
p.Gly2910Val Single submitter recessive dystrophic epidermolysis bullosa
p.Gly296= Single submitter epidermolysis bullosa dystrophica
p.Gly321Arg Single submitter Inborn genetic diseases ⚠
p.Gly366= Single submitter epidermolysis bullosa dystrophica
p.Gly490Ser Single submitter epidermolysis bullosa dystrophica ⚠
p.Gly636Val Single submitter transient bullous dermolysis of the newborn
p.Gly670= Single submitter epidermolysis bullosa dystrophica
p.Gly759= Single submitter epidermolysis bullosa dystrophica
p.Gly798Arg Single submitter generalized dominant dystrophic epidermolysis bullosa
p.Gly849Arg Single submitter Inborn genetic diseases
p.Gly853Ser Single submitter Inborn genetic diseases ⚠
p.Gly904Cys Single submitter
p.His1067Tyr Single submitter Inborn genetic diseases ⚠
p.His2829Tyr Single submitter epidermolysis bullosa dystrophica ⚠
p.His491= Single submitter epidermolysis bullosa dystrophica
p.His723= Single submitter Inborn genetic diseases
p.Ile123Leu Single submitter Inborn genetic diseases ⚠
p.Ile1476Thr Single submitter Inborn genetic diseases ⚠
p.Ile1996Val Single submitter Inborn genetic diseases ⚠
p.Ile308Thr Single submitter epidermolysis bullosa dystrophica ⚠
p.Ile679Val Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Ile986Met Single submitter Inborn genetic diseases ⚠
p.Leu1425Pro Single submitter Inborn genetic diseases
p.Leu210= Single submitter epidermolysis bullosa dystrophica
p.Leu2246Phe Single submitter Inborn genetic diseases
p.Leu471= Single submitter epidermolysis bullosa dystrophica
p.Leu5Val Single submitter epidermolysis bullosa dystrophica ⚠
p.Leu792= Single submitter epidermolysis bullosa dystrophica
p.Lys1831Arg Single submitter Inborn genetic diseases
p.Met1189Val Single submitter recessive dystrophic epidermolysis bullosa ⚠
p.Met1262Thr Single submitter amelogenesis imperfecta type 1 ⚠
p.Pro1038Ser Single submitter Inborn genetic diseases ⚠
p.Pro1088Leu Single submitter recessive dystrophic epidermolysis bullosa
p.Pro1270Leu Single submitter epidermolysis bullosa dystrophica
p.Pro1331Ser Single submitter Inborn genetic diseases ⚠
p.Pro1333= Single submitter epidermolysis bullosa dystrophica
p.Pro133His Single submitter Inborn genetic diseases
p.Pro1342Ser Single submitter Inborn genetic diseases ⚠
p.Pro1391Leu Single submitter recessive dystrophic epidermolysis bullosa
p.Pro1472Thr Single submitter dystrophic epidermolysis bullosa pruriginosa
p.Pro1520= Single submitter epidermolysis bullosa dystrophica
p.Pro1523Leu Single submitter nonsyndromic congenital nail disorder 8
p.Pro1739= Single submitter epidermolysis bullosa dystrophica
p.Pro1795Leu Single submitter epidermolysis bullosa dystrophica ⚠
p.Pro1805Leu Single submitter epidermolysis bullosa dystrophica ⚠
p.Pro1820Arg Single submitter recessive dystrophic epidermolysis bullosa
p.Pro1885Leu Single submitter Inborn genetic diseases
p.Pro1940Leu Single submitter epidermolysis bullosa dystrophica
p.Pro2086Leu Single submitter Inborn genetic diseases
p.Pro2089Leu Single submitter Inborn genetic diseases
p.Pro2089Thr Single submitter Inborn genetic diseases
p.Pro2134Ser Single submitter Inborn genetic diseases ⚠
p.Pro2145= Single submitter epidermolysis bullosa dystrophica
p.Pro2155= Single submitter epidermolysis bullosa dystrophica
p.Pro2191Leu Single submitter Inborn genetic diseases
p.Pro2199Leu Single submitter Inborn genetic diseases
p.Pro2209Ser Single submitter Inborn genetic diseases
p.Pro2244Ala Single submitter Inborn genetic diseases
p.Pro228Leu Single submitter Inborn genetic diseases ⚠
p.Pro2350= Single submitter epidermolysis bullosa dystrophica
p.Pro2376Leu Single submitter Inborn genetic diseases
p.Pro2397= Single submitter epidermolysis bullosa dystrophica
p.Pro2406Leu Single submitter Inborn genetic diseases
p.Pro2451= Single submitter epidermolysis bullosa dystrophica

Benign 94

c.1358-25C>T Multiple submitters
c.2314+15G>A Multiple submitters epidermolysis bullosa dystrophica
c.2587+28C>T Multiple submitters epidermolysis bullosa dystrophica
c.2710+35T>G Multiple submitters
c.3139+12G>A Multiple submitters epidermolysis bullosa dystrophica
c.3786+15G>A Multiple submitters epidermolysis bullosa dystrophica
c.3975+11C>T Multiple submitters epidermolysis bullosa dystrophica
c.4483-11T>C Multiple submitters epidermolysis bullosa dystrophica
c.4722+11C>T Multiple submitters epidermolysis bullosa dystrophica
c.4899+27T>C Multiple submitters
c.5307+7G>C Multiple submitters epidermolysis bullosa dystrophica
c.5424+61C>T Multiple submitters
c.5821-61C>T Multiple submitters epidermolysis bullosa dystrophica
c.6217-6C>T Multiple submitters epidermolysis bullosa dystrophica
c.6279+26C>T Multiple submitters
c.6618+21A>G Multiple submitters
c.6715-18C>T Multiple submitters
c.7164+28A>G Multiple submitters
c.7522-49T>C Multiple submitters
c.7687-6C>T Multiple submitters epidermolysis bullosa dystrophica
c.7759-98C>A Multiple submitters
c.7984-7del Multiple submitters epidermolysis bullosa dystrophica
c.8304+34C>T Multiple submitters
c.8305-20G>C Multiple submitters
c.8359-19T>C Multiple submitters
c.-57T>G Multiple submitters epidermolysis bullosa dystrophica
c.*65T>C Multiple submitters epidermolysis bullosa dystrophica
p.Ala1864Thr Multiple submitters epidermolysis bullosa dystrophica
p.Arg1506Gln Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Gly2698= Multiple submitters epidermolysis bullosa dystrophica
p.Leu1926= Multiple submitters
p.Pro2438Arg Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Ser543Asn Multiple submitters epidermolysis bullosa dystrophica
p.Thr30Ile Multiple submitters epidermolysis bullosa dystrophica
p.Val461= Multiple submitters
c.2050+16del Single submitter
c.2441-18G>A Single submitter
c.3759+16C>T Single submitter
c.3895-155C>T Single submitter
c.3976-14G>T Single submitter
c.4198-5del Single submitter
c.4279-17del Single submitter
c.4342-18C>A Single submitter
c.4482+19dup Single submitter
c.4819-19C>T Single submitter
c.5125-10C>T Single submitter epidermolysis bullosa dystrophica
c.5125-5del Single submitter
c.5125-6C>T Single submitter epidermolysis bullosa dystrophica
c.5235+19C>T Single submitter
c.5307+17del Single submitter
c.5568+15C>G Single submitter
c.5737-17G>T Single submitter
c.6216+19C>T Single submitter
c.6216+37G>A Single submitter
c.6279+6C>T Single submitter epidermolysis bullosa dystrophica
c.6574-7del Single submitter
c.683-8A>G Single submitter
c.6937-12_6937-11dup Single submitter
c.6937-9C>G Single submitter
c.7068+12dup Single submitter
c.7164+15del Single submitter
c.7273-14del Single submitter
c.7273-8dup Single submitter
c.7521+14dup Single submitter
c.7558-5dup Single submitter
c.7614+20G>T Single submitter
c.7930-19C>G Single submitter epidermolysis bullosa dystrophica
c.7984-8_7984-7del Single submitter
c.8408-125_8408-122dup Single submitter
c.8408-125_8408-123del Single submitter
c.8408-125_8408-124insCTGT Single submitter
c.8408-6C>A Single submitter epidermolysis bullosa dystrophica
c.8620+14del Single submitter
c.8620+14dup Single submitter
c.8620+17_8620+18insTGC Single submitter
c.8620+23G>A Single submitter epidermolysis bullosa dystrophica
p.Ala72Asp Single submitter
p.Ala950Val Single submitter
p.Arg1933Gln Single submitter
p.Arg1976Gly Single submitter
p.Arg931Ser Single submitter epidermolysis bullosa dystrophica
p.Arg951Cys Single submitter
p.Asn1065Ser Single submitter
p.Asp922= Single submitter
p.Ile1356= Single submitter
p.Pro2167Leu Single submitter ⚠
p.Pro2673Ser Single submitter
p.Pro2681Thr Single submitter
p.Pro277Leu Single submitter
p.Ser2936Arg Single submitter
p.Ser632Asn Single submitter
p.Thr389Met Single submitter
p.Thr612= Single submitter
p.Val2510Ala Single submitter

Benign/Likely benign 28

c.2050+16C>T Multiple submitters
c.5388+20C>T Multiple submitters
c.6937-12dup Multiple submitters
c.8047-4C>T Multiple submitters
c.8524_8527+10del Multiple submitters recessive dystrophic epidermolysis bullosa
c.8620+18_8620+19insCGC Multiple submitters epidermolysis bullosa dystrophica
c.*216G>C Multiple submitters epidermolysis bullosa dystrophica
p.Ala1503Val Multiple submitters Inborn genetic diseases
p.Ala2824= Multiple submitters epidermolysis bullosa dystrophica
p.Arg1120Lys Multiple submitters epidermolysis bullosa dystrophica
p.Arg1538Cys Multiple submitters epidermolysis bullosa dystrophica
p.Arg1538His Multiple submitters dystrophic epidermolysis bullosa pruriginosa
p.Glu1297Lys Multiple submitters epidermolysis bullosa dystrophica
p.Glu748Lys Multiple submitters epidermolysis bullosa dystrophica
p.Gly2218= Multiple submitters epidermolysis bullosa dystrophica
p.Gly2336= Multiple submitters epidermolysis bullosa dystrophica
p.Ile1996= Multiple submitters epidermolysis bullosa dystrophica
p.Phe1970= Multiple submitters epidermolysis bullosa dystrophica
p.Pro1277Leu Multiple submitters epidermolysis bullosa dystrophica
p.Pro1458Leu Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Pro1753= Multiple submitters epidermolysis bullosa dystrophica
p.Pro2119= Multiple submitters epidermolysis bullosa dystrophica
p.Pro2232= Multiple submitters epidermolysis bullosa dystrophica
p.Pro2429Leu Multiple submitters recessive dystrophic epidermolysis bullosa
p.Pro268Ser Multiple submitters epidermolysis bullosa dystrophica
p.Pro595Leu Multiple submitters epidermolysis bullosa dystrophica
p.Ser2030= Multiple submitters epidermolysis bullosa dystrophica
p.Ser509= Multiple submitters epidermolysis bullosa dystrophica

Likely benign 2866

Showing the top 300 by review status; the full set is in the sitemap.

c.1507+17C>G Multiple submitters
c.1636+9G>T Multiple submitters
c.2711-4C>T Multiple submitters
c.3140-4A>T Multiple submitters epidermolysis bullosa dystrophica
c.3786+14C>T Multiple submitters
c.4047+10G>T Multiple submitters
c.4198-17C>T Multiple submitters
c.4342-10T>A Multiple submitters
c.4437+16G>A Multiple submitters
c.4599+11G>A Multiple submitters
c.4936-12C>G Multiple submitters
c.5154+5T>C Multiple submitters epidermolysis bullosa dystrophica
c.5154+8G>A Multiple submitters
c.5772+14C>T Multiple submitters
c.5856+7T>G Multiple submitters
c.6394-16G>A Multiple submitters
c.6457-13C>T Multiple submitters
c.683-11C>T Multiple submitters
c.7165-18T>A Multiple submitters
c.7440+20C>T Multiple submitters
c.7485+7C>G Multiple submitters
c.7875+16G>A Multiple submitters
c.8527+12T>G Multiple submitters
c.*162C>T Multiple submitters epidermolysis bullosa dystrophica
p.Ala1204= Multiple submitters Inborn genetic diseases
p.Ala1562Thr Multiple submitters Inborn genetic diseases
p.Arg1036Gln Multiple submitters Inborn genetic diseases
p.Arg1243Gln Multiple submitters Inborn genetic diseases
p.Arg1298Lys Multiple submitters epidermolysis bullosa dystrophica
p.Arg1724= Multiple submitters
p.Arg295Gln Multiple submitters Inborn genetic diseases
p.Arg628Gln Multiple submitters
p.Arg931His Multiple submitters Inborn genetic diseases
p.Arg951His Multiple submitters Inborn genetic diseases
p.Asp2558Asn Multiple submitters Inborn genetic diseases
p.Asp790= Multiple submitters
p.Glu1656= Multiple submitters generalized dominant dystrophic epidermolysis bullosa
p.Glu2567= Multiple submitters
p.Glu734= Multiple submitters recessive dystrophic epidermolysis bullosa
p.Gly1785= Multiple submitters
p.Gly2563= Multiple submitters
p.Gly490= Multiple submitters
p.Gly798= Multiple submitters
p.Gly93Ser Multiple submitters Inborn genetic diseases
p.Leu10= Multiple submitters
p.Leu64= Multiple submitters
p.Leu912= Multiple submitters recessive dystrophic epidermolysis bullosa
p.Phe1238= Multiple submitters
p.Pro1520Leu Multiple submitters epidermolysis bullosa dystrophica
p.Pro1829Leu Multiple submitters Inborn genetic diseases
p.Pro2445= Multiple submitters
p.Pro637Leu Multiple submitters
p.Pro823= Multiple submitters
p.Ser46= Multiple submitters
p.Thr1711Ile Multiple submitters Inborn genetic diseases
p.Thr691Met Multiple submitters
p.Tyr1144= Multiple submitters epidermolysis bullosa dystrophica
p.Tyr2819= Multiple submitters recessive dystrophic epidermolysis bullosa
p.Tyr311= Multiple submitters
p.Val1022Ile Multiple submitters
p.Val1438Ile Multiple submitters epidermolysis bullosa dystrophica
p.Val211Ile Multiple submitters Inborn genetic diseases
p.Val285Ile Multiple submitters
c.1093+11del Single submitter
c.1093+11G>A Single submitter
c.1093+11G>C Single submitter
c.1093+11G>T Single submitter
c.1093+7G>A Single submitter
c.1093+7G>C Single submitter
c.1093+7GA[2] Single submitter
c.1093+9G>A Single submitter
c.1093+9G>C Single submitter
c.1094-10C>G Single submitter
c.1094-13G>A Single submitter
c.1094-15G>A Single submitter
c.1094-16G>C Single submitter
c.1094-19C>G Single submitter
c.1094-19C>T Single submitter
c.1094-20C>A Single submitter
c.1094-4G>A Single submitter
c.1094-4G>C Single submitter
c.1094-5T>C Single submitter
c.1094-6A>G Single submitter
c.1094-6A>T Single submitter
c.1094-9C>T Single submitter
c.1240+14G>A Single submitter
c.1240+16A>G Single submitter
c.1240+16A>T Single submitter
c.1240+18T>G Single submitter
c.1240+19T>A Single submitter
c.1240+9G>T Single submitter
c.1241-10C>T Single submitter
c.1241-14T>C Single submitter
c.1241-17C>T Single submitter
c.1241-4G>A Single submitter
c.1241-7T>C Single submitter
c.1241-7T>G Single submitter
c.1357+11G>C Single submitter
c.1357+14A>G Single submitter
c.1357+15A>G Single submitter
c.1357+16G>A Single submitter
c.1357+16G>T Single submitter
c.1357+18G>A Single submitter
c.1357+19_1358-37del Single submitter
c.1357+8C>T Single submitter
c.1357+9G>A Single submitter
c.1357+9G>C Single submitter
c.1358-10T>C Single submitter
c.1358-11T>C Single submitter
c.1358-11T>G Single submitter
c.1358-12G>A Single submitter
c.1358-16C>T Single submitter
c.1358-17A>T Single submitter
c.1358-20C>T Single submitter
c.1358-9A>C Single submitter
c.1507+10C>T Single submitter epidermolysis bullosa dystrophica
c.1507+12G>A Single submitter
c.1507+12G>C Single submitter
c.1507+13T>C Single submitter
c.1507+16G>C Single submitter
c.1507+17C>A Single submitter
c.1507+19G>T Single submitter
c.1507+8C>T Single submitter
c.1507+9T>C Single submitter epidermolysis bullosa dystrophica
c.1508-18T>A Single submitter
c.1508-19A>G Single submitter
c.1508-5A>T Single submitter
c.1508-7C>G Single submitter
c.1508-7C>T Single submitter
c.1508-9C>A Single submitter
c.1508-9C>G Single submitter
c.1508-9C>T Single submitter
c.1636+11C>T Single submitter
c.1636+12G>A Single submitter
c.1636+12G>C Single submitter
c.1636+13C>T Single submitter
c.1636+17C>T Single submitter
c.1636+7T>C Single submitter
c.1637-10T>C Single submitter
c.1637-16C>G Single submitter
c.1637-17C>T Single submitter
c.1637-18C>T Single submitter
c.1637-5C>T Single submitter
c.1637-6T>C Single submitter
c.1637-7C>T Single submitter
c.1637-9C>G Single submitter
c.1780+12dup Single submitter
c.1780+14G>A Single submitter
c.1780+9T>C Single submitter
c.1780+9T>G Single submitter
c.1781-11_1781-10del Single submitter
c.1781-13C>T Single submitter
c.1781-18_1781-12dup Single submitter
c.1781-19T>C Single submitter
c.1781-21_1781-15del Single submitter
c.1781-28ACTTCTG[3] Single submitter
c.1781-5C>T Single submitter
c.1781-8A>C Single submitter
c.1906+18G>A Single submitter
c.1906+19G>A Single submitter
c.1906+8T>C Single submitter
c.1906+9G>A Single submitter
c.1907-12C>T Single submitter
c.1907-13C>T Single submitter
c.1907-17T>A Single submitter
c.1907-18A>G Single submitter
c.1907-20G>A Single submitter
c.1907-8G>T Single submitter
c.1907-9T>C Single submitter
c.2050+11G>C Single submitter
c.2050+12C>T Single submitter
c.2050+17G>A Single submitter
c.2050+17G>T Single submitter
c.2050+19C>A Single submitter
c.2050+19C>G Single submitter
c.2050+20C>A Single submitter
c.2050+7C>A Single submitter
c.2050+8C>A Single submitter epidermolysis bullosa dystrophica
c.2050+8C>T Single submitter
c.2051-16T>C Single submitter
c.2051-18A>C Single submitter
c.2051-19C>G Single submitter
c.2051-5A>G Single submitter
c.2170+10G>C Single submitter
c.2170+13G>C Single submitter
c.2170+19G>A Single submitter
c.2170+19G>C Single submitter
c.2170+20del Single submitter
c.2170+7A>C Single submitter
c.2171-12C>A Single submitter
c.2171-14A>T Single submitter
c.2171-15C>T Single submitter
c.2171-20G>A Single submitter
c.2171-8G>C Single submitter
c.2171-8G>T Single submitter
c.2314+10C>A Single submitter
c.2314+10C>T Single submitter
c.2314+11C>T Single submitter
c.2314+12_2314+24del Single submitter
c.2314+12C>G Single submitter
c.2314+16C>A Single submitter
c.2314+16C>G Single submitter
c.2314+17C>G Single submitter
c.2315-10C>T Single submitter
c.2315-11T>C Single submitter
c.2315-15T>C Single submitter
c.2315-17C>G Single submitter
c.2315-8G>A Single submitter
c.2315-8G>T Single submitter
c.2440+10C>G Single submitter
c.2440+10C>T Single submitter
c.2440+11C>T Single submitter
c.2440+15C>G Single submitter
c.2440+15C>T Single submitter
c.2440+16G>A Single submitter
c.2440+20C>T Single submitter
c.2440+9C>T Single submitter
c.2441-10A>C Single submitter
c.2441-10A>T Single submitter
c.2441-11C>T Single submitter
c.2441-20C>T Single submitter
c.2441-4C>G Single submitter
c.2441-4C>T Single submitter
c.2441-8C>T Single submitter
c.2441-9C>T Single submitter
c.2587+10G>A Single submitter
c.2587+13T>C Single submitter
c.2587+15C>T Single submitter
c.2587+16G>A Single submitter
c.2587+16G>T Single submitter
c.2587+19G>A Single submitter
c.2588-11T>C Single submitter
c.2588-17_2588-6dup Single submitter
c.2588-19T>C Single submitter
c.2588-6C>T Single submitter
c.2588-7T>C Single submitter
c.266+15T>C Single submitter
c.266+17G>A Single submitter
c.266+19G>T Single submitter
c.266+7A>G Single submitter
c.267-10C>T Single submitter
c.267-11C>A Single submitter
c.267-12A>G Single submitter
c.267-15C>A Single submitter
c.267-16C>T Single submitter
c.267-17C>A Single submitter
c.267-17C>T Single submitter
c.267-19C>G Single submitter
c.267-6C>T Single submitter
c.267-7C>T Single submitter
c.267-8T>A Single submitter
c.267-8T>C Single submitter
c.267-9C>T Single submitter
c.2710+17G>A Single submitter
c.2710+17G>T Single submitter
c.2710+8G>A Single submitter
c.2710+8G>C Single submitter
c.2711-11G>A Single submitter
c.2711-12C>T Single submitter
c.2711-18C>A Single submitter
c.2711-20C>A Single submitter
c.2711-20C>T Single submitter
c.2711-4C>G Single submitter
c.2711-5C>G Single submitter
c.2711-5C>T Single submitter
c.2711-6C>T Single submitter
c.2711-9C>T Single submitter
c.2857+10C>T Single submitter
c.2857+12_2857+13del Single submitter
c.2857+12T>G Single submitter
c.2857+13C>T Single submitter
c.2857+14A>G Single submitter
c.2857+16C>T Single submitter
c.2857+7C>G Single submitter
c.2857+9G>A Single submitter
c.2858-13A>G Single submitter
c.2858-6C>T Single submitter
c.2858-8_2858-7del Single submitter
c.2858-9C>T Single submitter
c.2992+14C>T Single submitter
c.2992+15A>G Single submitter
c.2992+17G>T Single submitter
c.2992+20T>G Single submitter
c.2992+7G>A Single submitter
c.2992+8G>C Single submitter
c.2992+9dup Single submitter
c.2993-12T>C Single submitter
c.2993-16G>C Single submitter
c.2993-19C>G Single submitter
c.2993-19C>T Single submitter
c.2993-4G>A Single submitter
c.2993-8T>G Single submitter
c.2993-9C>G Single submitter
c.3139+10G>A Single submitter
c.3139+11_3139+19del Single submitter
c.3139+11C>T Single submitter
c.3139+12G>C Single submitter
c.3139+19G>T Single submitter
c.3139+20A>C Single submitter
c.3139+7T>C Single submitter

Uncertain significance 1602

Showing the top 300 by review status; the full set is in the sitemap.

c.2170+3G>A Multiple submitters
c.2441-6G>A Multiple submitters recessive dystrophic epidermolysis bullosa
c.2858-3C>T Multiple submitters
c.3276+6G>C Multiple submitters
c.4012-3C>T Multiple submitters
c.4197+5C>T Multiple submitters
c.4224+3_4224+6del Multiple submitters
c.4636-3C>T Multiple submitters
c.5532+3G>A Multiple submitters
c.5604+5G>A Multiple submitters
c.5820+6C>A Multiple submitters
c.6217-3C>T Multiple submitters
c.6652-3del Multiple submitters
c.6714+3G>A Multiple submitters
c.7614+6T>C Multiple submitters
c.7758+5G>A Multiple submitters
c.8227-3C>T Multiple submitters epidermolysis bullosa dystrophica
p.Ala1061Thr Multiple submitters COL7A1-related disorder ⚠
p.Ala1282Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1864Val Multiple submitters ⚠
p.Ala2258Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2328Gly Multiple submitters Inborn genetic diseases
p.Ala2513Val Multiple submitters Inborn genetic diseases ⚠
p.Ala255Val Multiple submitters ⚠
p.Ala2592Glu Multiple submitters Inborn genetic diseases
p.Ala36Thr Multiple submitters Inborn genetic diseases
p.Ala37Thr Multiple submitters
p.Ala74Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala74Val Multiple submitters Inborn genetic diseases ⚠
p.Ala866Ser Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Arg105His Multiple submitters epidermolysis bullosa dystrophica
p.Arg1074Lys Multiple submitters ⚠
p.Arg1101Trp Multiple submitters
p.Arg1154Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1154His Multiple submitters Inborn genetic diseases
p.Arg1154Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg1201Cys Multiple submitters Inborn genetic diseases
p.Arg1201His Multiple submitters nonsyndromic congenital nail disorder 8
p.Arg1202Cys Multiple submitters Inborn genetic diseases
p.Arg1388Cys Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Arg1405His Multiple submitters Inborn genetic diseases
p.Arg1408Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1470Gln Multiple submitters ⚠
p.Arg1506Trp Multiple submitters Inborn genetic diseases
p.Arg1514Cys Multiple submitters epidermolysis bullosa dystrophica
p.Arg1529His Multiple submitters Inborn genetic diseases
p.Arg1574Trp Multiple submitters COL7A1-related epidermolysis bullosa ⚠
p.Arg1594Trp Multiple submitters epidermolysis bullosa dystrophica
p.Arg1657His Multiple submitters Inborn genetic diseases
p.Arg1696His Multiple submitters epidermolysis bullosa dystrophica
p.Arg1724Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1772Gln Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Arg1780Gln Multiple submitters Inborn genetic diseases
p.Arg1780Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1877Cys Multiple submitters Inborn genetic diseases
p.Arg1978Pro Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Arg2069His Multiple submitters
p.Arg2146Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg2158Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2346Cys Multiple submitters pretibial dystrophic epidermolysis bullosa
p.Arg2424Gln Multiple submitters Inborn genetic diseases
p.Arg2474Cys Multiple submitters ⚠
p.Arg2480Gln Multiple submitters Inborn genetic diseases
p.Arg2480Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg2485His Multiple submitters ⚠
p.Arg2492Gln Multiple submitters Inborn genetic diseases
p.Arg2504Cys Multiple submitters epidermolysis bullosa dystrophica
p.Arg2504Leu Multiple submitters
p.Arg2532Gly Multiple submitters Inborn genetic diseases
p.Arg2532Trp Multiple submitters Inborn genetic diseases
p.Arg2553Trp Multiple submitters
p.Arg2651His Multiple submitters Inborn genetic diseases
p.Arg2685Pro Multiple submitters epidermolysis bullosa dystrophica
p.Arg26Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg2795Cys Multiple submitters Inborn genetic diseases
p.Arg2814Gln Multiple submitters
p.Arg324Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg401Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg481His Multiple submitters thyroid gland disorder ⚠
p.Arg542Cys Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Arg578Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg582His Multiple submitters Inborn genetic diseases ⚠
p.Arg593Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg593Trp Multiple submitters epidermolysis bullosa dystrophica
p.Arg615Met Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Arg671Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg716Met Multiple submitters Inborn genetic diseases ⚠
p.Arg878His Multiple submitters Inborn genetic diseases ⚠
p.Arg910Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg910Pro Multiple submitters
p.Arg963Cys Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Asn53Ser Multiple submitters epidermolysis bullosa dystrophica
p.Asp1196Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp157Asn Multiple submitters Inborn genetic diseases
p.Asp1590His Multiple submitters
p.Asp1784His Multiple submitters Inborn genetic diseases
p.Asp1871Val Multiple submitters
p.Asp1983His Multiple submitters Inborn genetic diseases
p.Asp2007Glu Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Asp2010Asn Multiple submitters Inborn genetic diseases
p.Asp2010Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp2642Asn Multiple submitters
p.Asp790Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp86Asn Multiple submitters
p.Cys2802Ser Multiple submitters Inborn genetic diseases ⚠
p.Gln24Pro Multiple submitters Inborn genetic diseases
p.Gln251Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln536His Multiple submitters Inborn genetic diseases ⚠
p.Gln894Leu Multiple submitters Inborn genetic diseases ⚠
p.Glu1339Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu1422Lys Multiple submitters ⚠
p.Glu1521Gln Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Glu1535Asp Multiple submitters Inborn genetic diseases
p.Glu1656Ala Multiple submitters Inborn genetic diseases
p.Glu1698Lys Multiple submitters Inborn genetic diseases
p.Glu17Gln Multiple submitters ⚠
p.Glu2098Ala Multiple submitters epidermolysis bullosa dystrophica
p.Glu2142Lys Multiple submitters Inborn genetic diseases
p.Glu2157Gln Multiple submitters Inborn genetic diseases
p.Glu2340Lys Multiple submitters Inborn genetic diseases
p.Glu2349Lys Multiple submitters Inborn genetic diseases
p.Glu2540Gly Multiple submitters
p.Glu27Gly Multiple submitters generalized dominant dystrophic epidermolysis bullosa ⚠
p.Glu915Lys Multiple submitters ⚠
p.Glu925Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly100Arg Multiple submitters ⚠
p.Gly101Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1275Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly1320_Ala1321insThrProGly Multiple submitters nonsyndromic congenital nail disorder 8
p.Gly1353Arg Multiple submitters ⚠
p.Gly1358Ser Multiple submitters ⚠
p.Gly1386Ala Multiple submitters ⚠
p.Gly1546Arg Multiple submitters ⚠
p.Gly1546Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly165Glu Multiple submitters
p.Gly1676Arg Multiple submitters dystrophic epidermolysis bullosa pruriginosa ⚠
p.Gly1901Ser Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Gly2251Arg Multiple submitters ⚠
p.Gly2304Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly2398Ser Multiple submitters ⚠
p.Gly316Glu Multiple submitters Inborn genetic diseases
p.Gly477Ser Multiple submitters Inborn genetic diseases
p.Gly815Ser Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Gly98Arg Multiple submitters Inborn genetic diseases ⚠
p.His2801Tyr Multiple submitters
p.His899Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile1121Met Multiple submitters Inborn genetic diseases
p.Ile1476Val Multiple submitters Inborn genetic diseases ⚠
p.Ile704Asn Multiple submitters ⚠
p.Leu1096Gln Multiple submitters Inborn genetic diseases
p.Leu1276Phe Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Leu1393Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu2044Phe Multiple submitters
p.Leu2334Gln Multiple submitters
p.Leu269Pro Multiple submitters
p.Leu382Pro Multiple submitters Inborn genetic diseases
p.Leu43Pro Multiple submitters
p.Leu487Arg Multiple submitters Inborn genetic diseases
p.Lys1443Asn Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Lys1518Glu Multiple submitters nonsyndromic congenital nail disorder 8 ⚠
p.Lys1639Asn Multiple submitters
p.Lys2038Arg Multiple submitters epidermolysis bullosa dystrophica
p.Lys2309Asn Multiple submitters recessive dystrophic epidermolysis bullosa
p.Lys2312Asn Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Met1189Thr Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Met817Ile Multiple submitters ⚠
p.Phe1484Leu Multiple submitters ⚠
p.Phe197dup Multiple submitters
p.Pro1168Arg Multiple submitters recessive dystrophic epidermolysis bullosa
p.Pro1316Ser Multiple submitters Inborn genetic diseases
p.Pro1337Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro1337Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1394Arg Multiple submitters Inborn genetic diseases
p.Pro1410Ser Multiple submitters
p.Pro1426= Multiple submitters recessive dystrophic epidermolysis bullosa
p.Pro1582Ser Multiple submitters
p.Pro1644Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1645Leu Multiple submitters
p.Pro1648Leu Multiple submitters Inborn genetic diseases
p.Pro1663Thr Multiple submitters recessive dystrophic epidermolysis bullosa
p.Pro1705Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1736Thr Multiple submitters
p.Pro1805Ser Multiple submitters
p.Pro1822Leu Multiple submitters Inborn genetic diseases
p.Pro2119Leu Multiple submitters ⚠
p.Pro2145Leu Multiple submitters Inborn genetic diseases
p.Pro2172Leu Multiple submitters ⚠
p.Pro2191= Multiple submitters
p.Pro2215Ala Multiple submitters Inborn genetic diseases
p.Pro227Arg Multiple submitters Inborn genetic diseases
p.Pro228Ser Multiple submitters ⚠
p.Pro2337Ser Multiple submitters Inborn genetic diseases
p.Pro2350Ser Multiple submitters epidermolysis bullosa dystrophica
p.Pro2364Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro2371Leu Multiple submitters
p.Pro2394Arg Multiple submitters
p.Pro2445Leu Multiple submitters recessive dystrophic epidermolysis bullosa
p.Pro2747Leu Multiple submitters Inborn genetic diseases
p.Pro476Leu Multiple submitters Inborn genetic diseases
p.Pro507Leu Multiple submitters recessive dystrophic epidermolysis bullosa ⚠
p.Pro510Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro644Ser Multiple submitters ⚠
p.Pro657Arg Multiple submitters
p.Pro816Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro863Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro889Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser1012Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser1097Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser1686Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser2273Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser2273Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser245Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser2670Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser2729Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser314Ile Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Ser630Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser698Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser841Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser882Leu Multiple submitters epidermolysis bullosa dystrophica
p.Ser968Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser971Leu Multiple submitters Inborn genetic diseases
p.Thr1396Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr225Ile Multiple submitters ⚠
p.Thr2786Met Multiple submitters Inborn genetic diseases
p.Thr290Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr325Ile Multiple submitters Inborn genetic diseases
p.Thr394Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr429Ile Multiple submitters
p.Thr544Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr612Met Multiple submitters Inborn genetic diseases ⚠
p.Thr683Met Multiple submitters
p.Thr747Ala Multiple submitters ⚠
p.Thr771Ile Multiple submitters
p.Thr795Ile Multiple submitters ⚠
p.Thr800Pro Multiple submitters ⚠
p.Thr928Arg Multiple submitters Inborn genetic diseases
p.Trp631Gly Multiple submitters Inborn genetic diseases
p.Tyr391Cys Multiple submitters Inborn genetic diseases ⚠
p.Val1075Ala Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Val1157Ala Multiple submitters Inborn genetic diseases ⚠
p.Val1210Leu Multiple submitters Inborn genetic diseases ⚠
p.Val1249Ala Multiple submitters
p.Val1268Ala Multiple submitters ⚠
p.Val1669Met Multiple submitters
p.Val21Met Multiple submitters Inborn genetic diseases ⚠
p.Val2276Met Multiple submitters ⚠
p.Val2402Ile Multiple submitters epidermolysis bullosa dystrophica ⚠
p.Val2403del Multiple submitters
p.Val2933Leu Multiple submitters Inborn genetic diseases ⚠
p.Val319Met Multiple submitters Inborn genetic diseases ⚠
p.Val362Ile Multiple submitters Inborn genetic diseases ⚠
p.Val565Ile Multiple submitters Inborn genetic diseases ⚠
p.Val614Ala Multiple submitters Inborn genetic diseases ⚠
p.Val767Ala Multiple submitters Inborn genetic diseases ⚠
p.Val848Phe Multiple submitters Inborn genetic diseases ⚠
c.1241-12T>G Single submitter
c.1241-3C>A Single submitter
c.1357+4A>G Single submitter
c.1508-3C>T Single submitter
c.1636+59C>G Single submitter COL7A1-related disorder
c.1780+6T>A Single submitter
c.1781-20C>G Single submitter
c.1906+3del Single submitter
c.2050+3C>T Single submitter
c.2170+6G>A Single submitter epidermolysis bullosa dystrophica
c.2171-3C>T Single submitter
c.2315-3C>T Single submitter
c.2440+3A>C Single submitter amelogenesis imperfecta type 1
c.2440+3A>G Single submitter
c.2440+4T>C Single submitter
c.2587+3A>T Single submitter nonsyndromic congenital nail disorder 8
c.266+5G>A Single submitter
c.267-20C>G Single submitter
c.267-3C>T Single submitter
c.267-4A>G Single submitter
c.2710+3G>A Single submitter
c.3140-3C>A Single submitter
c.3277-3C>T Single submitter
c.3550+11G>A Single submitter
c.3550+4A>C Single submitter
c.3759+3_3759+8del Single submitter dystrophic epidermolysis bullosa pruriginosa
c.3759+9_3759+18del Single submitter
c.3786+3G>A Single submitter
c.3786+6T>C Single submitter
c.3831+3G>A Single submitter
c.3894+3G>A Single submitter
c.3894+4A>G Single submitter
c.3894+6T>C Single submitter
c.3975+6C>G Single submitter
c.3975+6C>T Single submitter
c.4011+6G>T Single submitter
c.4224+5G>A Single submitter
c.426+9_426+18del Single submitter
c.427-3C>T Single submitter
c.4279-15C>G Single submitter
c.4341+6A>G Single submitter epidermolysis bullosa dystrophica
c.4342-13G>A Single submitter
c.4402-16A>G Single submitter
c.4437+5G>A Single submitter epidermolysis bullosa dystrophica
c.4482+5G>A Single submitter