MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Collagen Diseases (D003095)
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Epidermolysis Bullosa (D004820)
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Epidermolysis Bullosa Dystrophica (D016108)

       Child Nodes:
........expandEpidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive (C567122)
........expandEpidermolysis Bullosa Dystrophica Neurotrophica (C562637)
........expandEpidermolysis Bullosa Dystrophica With Subcorneal Cleavage (C567272)
........expandEpidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant (C567121)
........expandEpidermolysis bullosa dystrophica, Pasini type (C535956)
........expandEpidermolysis Bullosa Pruriginosa (C563192)
........expandEpidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails (C562638)
........expandEpidermolysis bullosa, pretibial (C535494)
........expandTransient bullous dermolysis of the newborn (C536979)



 Sister Nodes: 
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandEpidermolysis Bullosa Acquisita (D016107)
..expandEpidermolysis Bullosa Dystrophica (D016108) Child8
..expandEpidermolysis Bullosa Simplex (D016110) Child8
..expandEpidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase (C565049)
..expandEpidermolysis Bullosa With Diaphragmatic Hernia (C565588)
..expandEpidermolysis Bullosa, Junctional (D016109) Child2
..expandEpidermolysis bullosa, lethal acantholytic (C535493)
..expandINTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL (OMIM:614748)
..expandNephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..expandPoikiloderma of Kindler (C536321)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4204
Name:Epidermolysis Bullosa Dystrophica
Definition:Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Alternative IDs:DO:DOID:4959|OMIM:226600
ParentIDs:MESH:D003095|MESH:D004820
TreeNumbers:C16.131.831.493.160 |C16.320.850.275.160 |C17.300.200.367 |C17.800.804.493.160 |C17.800.827.275.160 |C17.800.865.410.160
Synonyms:Bullosa Dystrophica, Epidermolysis |Bullosa Dystrophicas, Epidermolysis |Bullosa, Dystrophic Epidermolysis |Bullosas, Dystrophic Epidermolysis |Cockayne Touraine Disease |Cockayne-Touraine Disease |Cockayne Touraine Type Epidermolysis Bullosa |Cockayne-Touraine
Slim Mappings:Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease
Reference: MedGen: D016108
MeSH: D016108
OMIM: 226600;
MSeqDR LSDB:  
Genes: COL7A1; MMP1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0008066Abnormal blistering of the skin
4 HP:0001596Alopecia
5 HP:0001903Anemia
6 HP:0001075Atrophic scars
7 HP:0000518Cataract
NAMDC:  Cataracts
8 HP:0000509Conjunctivitis
9 HP:0002019Constipation
10 HP:0000559Corneal scarring
11 HP:0002015Dysphagia
NAMDC:  Dysphagia
12 HP:0002043Esophageal stricture
13 HP:0001371Flexion contracture
14 HP:0001030Fragile skin
15 HP:0001510Growth delay
NAMDC:  Growth delay
16 HP:0006297Hypoplasia of dental enamel
17 HP:0004395Malnutrition
18 HP:0001056Milia
19 HP:0004057Mitten deformity
20 HP:0002164Nail dysplasia
21 HP:0008404Nail dystrophy
22 HP:0000160Narrow mouth
23 HP:0005203Spontaneous esophageal perforation
24 HP:0002860Squamous cell carcinoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000094.4(COL7A1):c.8684G>A (p.Arg2895Gln)1294COL7A1not provided-1RCV001535766; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409; MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334860235048602350CT48602350-
NM_000094.4(COL7A1):c.8541del (p.Glu2848fs)1294COL7A1Likely pathogenicrs2043547588RCV001261559; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934860262148602621CAC3:g.48602621_48602621del-
NM_000094.4(COL7A1):c.8524_8527+10del1294COL7A1Benignrs566181351RCV000018995|RCV000018996|RCV000902661; NMedGen:C4015945|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234860283348602846GCTGTCCTCACCTTCG3:g.48602833_48602846delOMIM:120120.0021
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys)1294COL7A1Pathogenicrs121912828RCV000018969; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934860371448603714AT3:g.48603714A>TClinGen:CA257933,UniProtKB:Q02388#VAR_001837,OMIM:120120.0001C0079474 226600 Recessive dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)1294COL7A1Uncertain significancers142566193RCV000193478|RCV000623488|RCV001148693|RCV001358200|RCV001275762; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:303|MedGen:CN517202|MedGen:C267361234860373648603736GA3:g.48603736G>AClinGen:CA277148,UniProtKB:Q02388#VAR_011201C0950123 Inborn genetic diseases;
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg)1294COL7A1Pathogenicrs1064797081RCV000487447; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934860411948604119CT3:g.48604119C>TClinGen:CA16621527
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg)1294COL7A1Likely pathogenicrs121912853RCV000019011|RCV001378411; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234860415248604152CT3:g.48604152C>TClinGen:CA257965,UniProtKB:Q02388#VAR_001836,OMIM:120120.0038C0079474 226600 Recessive dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)1294COL7A1Uncertain significancers377182638RCV000993563|RCV001278912; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409; MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129, Orphanet:89843; Human Phenotype Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850, Orphanet:79410|MedGen:C2673634860416348604163CT3:g.48604163C>T-
NM_000094.4(COL7A1):c.8109+1G>A1294COL7A1Pathogenic-1RCV001580585; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934860456048604560CT48604560-
NM_000094.4(COL7A1):c.8101G>T (p.Gly2701Trp)1294COL7A1Likely pathogenicrs1575418015RCV000991328; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409; MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129, Orphanet:89843; Human Phenotype Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850, Orphanet:7941034860456948604569CA3:g.48604569C>A-
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg)1294COL7A1Likely pathogenicrs121912851RCV000019009|RCV001203194; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234860516948605169CT3:g.48605169C>TClinGen:CA257960,UniProtKB:Q02388#VAR_001833,OMIM:120120.0036C0079474 226600 Recessive dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg)1294COL7A1Likely pathogenicrs2043715843RCV001261558; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934860595848605958CG3:g.48605958C>G-
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=)1294COL7A1Conflicting interpretations of pathogenicityrs201140493RCV000282181|RCV001449945|RCV000890440; NMONDO:MONDO:0006543,MedGen:C0079294, Orphanet:303|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234860682048606820GA3:g.48606820G>AClinGen:CA2378362
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter)1294COL7A1Pathogenicrs121912852RCV000019010|RCV000255683; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234860773748607737GA3:g.48607737G>AClinGen:CA257962,OMIM:120120.0037CN517202 not provided;
NM_000094.4(COL7A1):c.7272+1G>A1294COL7A1Pathogenic-1RCV001594414; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934860829348608293CT48608293-
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)1294COL7A1Pathogenicrs121912839RCV000018998|RCV000022473|RCV000408804|RCV000439658|RCV001352821; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MONDO:MONDO:0011852,MedGen:C1843761,OMIM:607523|MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750, Orphanet:231568|MedGen:CN517202|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:3034861014548610145CT3:g.48610145C>TClinGen:CA128519,UniProtKB:Q02388#VAR_011191,OMIM:120120.0023C0432322 131750 Generalized dominant dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.6707G>A (p.Gly2236Asp)1294COL7A1Uncertain significance-1RCV001580166; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861061448610614CT48610614-
NM_000094.4(COL7A1):c.6696del (p.Gly2233fs)1294COL7A1Likely pathogenicrs749256529RCV000991419; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409; MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750, Orphanet:23156834861062548610625CGC3:g.48610625_48610625del-
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)1294COL7A1Pathogenicrs768128088RCV000413123|RCV000454227|RCV001272346|RCV001266180|RCV001352936; NMedGen:CN517202|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:C2673612|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334861129748611298AAG3:g.48611297_48611298insGClinGen:CA2378969CN517202 not provided;
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)1294COL7A1Pathogenic/Likely pathogenicrs767539005RCV000761228|RCV001352773|RCV001380774; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:303|MedGen:CN51720234861169548611695CT3:g.48611695C>T-
NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=)1294COL7A1Pathogenicrs767539005RCV001786459; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861169548611695CA3:g.48611695C>A-
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp)1294COL7A1Pathogenicrs121912849RCV000019007|RCV000413807|RCV001352769; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN517202|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334861266948612669GA3:g.48612669G>AClinGen:CA257956,UniProtKB:Q02388#VAR_001823,OMIM:120120.0034CN517202 not provided;
NM_000094.4(COL7A1):c.6170C>T (p.Pro2057Leu)1294COL7A1Uncertain significance-1RCV001580586; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861278248612782GA48612782-
NM_000094.4(COL7A1):c.6103del (p.Glu2035fs)1294COL7A1Pathogenic-1RCV001714246; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861284948612849TCT48612848-
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)1294COL7A1Conflicting interpretations of pathogenicityrs121912838RCV000018997|RCV000335209|RCV000850543; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN517202|7 conditions34861286148612861CT3:g.48612861C>TClinGen:CA257946,UniProtKB:Q02388#VAR_011177,OMIM:120120.0022CN517202 not provided;
NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu)1294COL7A1Pathogenicrs121912843RCV000019000|RCV000760150; NMONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750, Orphanet:231568|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861290848612908CT3:g.48612908C>TClinGen:CA257950,UniProtKB:Q02388#VAR_011174,OMIM:120120.0027C0432322 131750 Generalized dominant dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)1294COL7A1Pathogenicrs1055680335RCV000625955|RCV000789046|RCV001216539; NMONDO:MONDO:0006543,MedGen:C0079294, Orphanet:303|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234861293048612930GA3:g.48612930G>AClinGen:CA352663824C0079294 Dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs)1294COL7A1Pathogenicrs1064797080RCV000487435; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861311148613114CCGTTC3:g.48613111_48613114delClinGen:CA16621528
NM_000094.4(COL7A1):c.5819del (p.Pro1940fs)1294COL7A1Pathogenicrs1575442301RCV000018974; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861368348613683CGC3:g.48613683_48613683delOMIM:120120.0006C0079474 226600 Recessive dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.5783G>A (p.Gly1928Glu)1294COL7A1Likely pathogenicrs1560219171RCV000761301; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861371948613719CT3:g.48613719C>T-
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)1294COL7A1Pathogenic/Likely pathogenicrs1057517724RCV000412944|RCV000761300; NMedGen:CN517202|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861420448614204CG3:g.48614204C>GClinGen:CA16042520CN517202 not provided;
NM_000094.4(COL7A1):c.5532+1G>A1294COL7A1Pathogenic/Likely pathogenicrs767182886RCV000018990|RCV000579227|RCV000626021|RCV001272354; NMedGen:C1853063|MedGen:CN517202|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:C267361234861575348615753CT3:g.48615753C>TClinGen:CA2379463,OMIM:120120.0018CN517202 not provided;
NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg)1294COL7A1Pathogenicrs121912841RCV000144373|RCV000225690|RCV000256181; NMONDO:MONDO:0007557,MedGen:C0268371,OMIM:132000|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MONDO:MONDO:0011852,MedGen:C1843761,OMIM:60752334861593048615930CT3:g.48615930C>TClinGen:CA270740,COL7A1 database:COL7A1_00229,UniProtKB:Q02388#VAR_015520,OMIM:120120.0025
NM_000094.4(COL7A1):c.5254_5257delinsTGAATCA (p.Gly1752_Pro1753delinsTer)1294COL7A1Pathogenic-1RCV001579314; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861692748616930GTCCTGATTCA48616927-
NM_000094.4(COL7A1):c.5000G>A (p.Gly1667Glu)1294COL7A1Uncertain significancers864321654RCV000203512; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861806648618066CT3:g.48618066C>TClinGen:CA279919
NM_000094.4(COL7A1):c.4980+1G>C1294COL7A1Likely pathogenicrs730880285RCV000157650; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861831448618314CG3:g.48618314C>GClinGen:CA273743
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter)1294COL7A1Pathogenicrs751535193RCV000760309|RCV001253741; NMedGen:CN517202|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861869848618698GA3:g.48618698G>A-
NM_000094.4(COL7A1):c.4871del (p.Pro1624fs)1294COL7A1Pathogenicrs1064797082RCV000487428; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861872148618721TGT3:g.48618721_48618721delClinGen:CA16621529
NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg)1294COL7A1Pathogenicrs121912840RCV000018993|RCV000022474; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MONDO:MONDO:0011852,MedGen:C1843761,OMIM:60752334861891648618916CG3:g.48618916C>GUniProtKB:Q02388#VAR_015519,OMIM:120120.0024,ClinGen:CA128521C1843761 607523 Nail disorder, nonsyndromic congenital, 8;
NM_000094.4(COL7A1):c.4616del (p.Pro1539fs)1294COL7A1Pathogenic-1RCV001580581; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934861977548619775AGA48619774-
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp)1294COL7A1Pathogenicrs756217590RCV000331750|RCV001261557; NMedGen:CN517202|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862059448620594CT3:g.48620594C>TClinGen:CA2380011CN517202 not provided;
NC_000003.12:g.48584060del1294COL7A1Likely pathogenicrs2045013494RCV001261560; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862149348621493ACA3:g.48621493_48621493del-
NM_000094.4(COL7A1):c.4198G>A (p.Gly1400Ser)1294COL7A1Pathogenic-1RCV001730025; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862149448621494CT48621494-
NM_000094.4(COL7A1):c.4119+1G>T1294COL7A1Pathogenicrs1575467199RCV000018983; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862191748621917CA3:g.48621917C>AOMIM:120120.0013C0079474 226600 Recessive dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu)1294COL7A1Conflicting interpretations of pathogenicityrs140403507RCV000490480|RCV000898865|RCV001144471; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409; MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750, Orphanet:231568|MedGen:CN517202|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334862191948621919GA3:g.48621919G>AClinGen:CA2380226
NM_000094.4(COL7A1):c.3861del (p.Pro1289fs)1294COL7A1Pathogenicrs1575470363RCV000018972; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862302348623023GCG3:g.48623023_48623023delOMIM:120120.0004C0079474 226600 Recessive dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser)1294COL7A1Uncertain significancers569641113RCV001334216|RCV001780255; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234862304348623043CT48623043-
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu)1294COL7A1Benignrs35761247RCV000253442|RCV000268877|RCV000677318|RCV001523645; NMedGen:CN169374|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:303|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234862312448623124GA3:g.48623124G>AClinGen:CA2380380,UniProtKB:Q02388#VAR_001811
NM_000094.4(COL7A1):c.3504del (p.Pro1168_Leu1169insTer)1294COL7A1Likely pathogenicrs730880286RCV000157651; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862381148623811AGA3:g.48623811_48623811delClinGen:CA273744
NM_000094.4(COL7A1):c.3376_3386del (p.Tyr1126fs)1294COL7A1Pathogenicrs765699235RCV000850363; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862401348624023TGGGTCCATGTAT3:g.48624013_48624023del-
NM_000094.4(COL7A1):c.3287T>A (p.Leu1096Gln)1294COL7A1not provided-1RCV001535511; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409; MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334862411248624112AT48624112-
NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter)1294COL7A1Likely pathogenicrs1553612617RCV000578178; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862441648624416GA3:g.48624416G>AClinGen:CA352708242
NM_000094.4(COL7A1):c.3263C>T (p.Pro1088Leu)1294COL7A1Conflicting interpretations of pathogenicityrs529120446RCV000975561|RCV001580557; NMedGen:CN517202|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862441848624418GA3:g.48624418G>A-
NM_000094.4(COL7A1):c.2989C>T (p.Gln997Ter)1294COL7A1Pathogenicrs1559423385RCV000761529; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862485648624856GA3:g.48624856G>A-
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln)1294COL7A1Uncertain significancers568498471RCV000490263|RCV001144588; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409; MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750, Orphanet:231568|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334862487648624876CT3:g.48624876C>TClinGen:CA2380685C0432322 131750 Generalized dominant dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)1294COL7A1Pathogenicrs746056280RCV000018971|RCV001388796; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234862619048626191TTC3:g.48626190_48626191insCOMIM:120120.0003C0079474 226600 Recessive dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)1294COL7A1Conflicting interpretations of pathogenicityrs202237834RCV000490367|RCV000937223|RCV001273594|RCV001146519; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409; MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750, Orphanet:231568|MedGen:CN517202|MedGen:C2673612|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334862635148626351CT3:g.48626351C>TClinGen:CA2380900C0432322 131750 Generalized dominant dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer)1294COL7A1Pathogenicrs1064797079RCV000487456|RCV001214975; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234862642148626422CCTCAG3:g.48626421_48626422insTCAGClinGen:CA16621530
NC_000003.12:g.48589471del1294COL7A1Pathogenicrs1336602322RCV000987265; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862690348626903GCG3:g.48626903_48626903del-
NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val)1294COL7A1Uncertain significancers751176402RCV001333206; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862766148627661TC48627661-
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu)1294COL7A1Benignrs2228561RCV000252599|RCV000366293|RCV000677326|RCV001519697; NMedGen:CN169374|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:303|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234862801448628014GA3:g.48628014G>AClinGen:CA2381108,UniProtKB:Q02388#VAR_001810
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)1294COL7A1Pathogenicrs144023803RCV000413975|RCV000578166|RCV000779414|RCV000763514; NMedGen:CN517202|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:303|7 conditions34862815448628154GA3:g.48628154G>AClinGen:CA2381135CN517202 not provided;
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter)1294COL7A1Pathogenicrs368007918RCV000328456|RCV000763516|RCV001273339|RCV001352754; NMedGen:CN517202|7 conditions|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334862896048628960GA3:g.48628960G>AClinGen:CA2381174CN517202 not provided;
NM_000094.4(COL7A1):c.1319del (p.Glu440fs)1294COL7A1Pathogenicrs1559435706RCV000785757; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934862936948629369CTC3:g.48629369_48629369del-
NM_000094.4(COL7A1):c.933C>A (p.Tyr311Ter)1294COL7A1Pathogenicrs121912830RCV000018973; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934863004648630046GT3:g.48630046G>TClinGen:CA257937,OMIM:120120.0005C0079474 226600 Recessive dystrophic epidermolysis bullosa;
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)1294COL7A1Pathogenicrs121912854RCV000019013|RCV000019014|RCV000415442|RCV001352750|RCV001384443; NMedGen:C2673612|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|14 conditions|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:303|MedGen:CN51720234863034848630348GA3:g.48630348G>AClinGen:CA127205,OMIM:120120.0040C0241054 Abnormal blistering of the skin;
NM_000094.4(COL7A1):c.682+5G>A1294COL7A1Likely pathogenic-1RCV001732147; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934863053048630530CT48630530-
NM_000094.4(COL7A1):c.682+1G>A1294COL7A1Pathogenic/Likely pathogenicrs775288140RCV000413063|RCV000503323|RCV001273346; NMedGen:CN517202|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:C267361234863053448630534CT3:g.48630534C>TClinGen:CA16042478CN517202 not provided;
NM_000094.4(COL7A1):c.657del (p.Gly220fs)1294COL7A1Pathogenicrs1575494051RCV000987266; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:7940934863056048630560CAC3:g.48630560_48630560del-
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter)1294COL7A1Pathogenicrs886041186RCV000360923|RCV001267646|RCV001352749; NMedGen:CN517202|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334863066448630664GA3:g.48630664G>AClinGen:CA10602899CN517202 not provided;
NM_000094.4(COL7A1):c.84A>G (p.Arg28=)1294COL7A1Pathogenicrs1559444716RCV000721910|RCV001352696; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MONDO:MONDO:0006543,MedGen:C0079294, Orphanet:30334863250948632509TC3:g.48632509T>C-
NM_000094.4(COL7A1):c.1A>G (p.Met1Val)1294COL7A1Pathogenicrs1064797078RCV000487444|RCV000579087; NMONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600, Orphanet:79408, Orphanet:79409|MedGen:CN51720234863259248632592TC3:g.48632592T>CClinGen:CA16621531
MSeqDR Portal