Total 29 pathogenic variants reported for Epidermolysis bullosa pruriginosa 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000094.4(COL7A1):c.6752G>A (p.Gly2251Glu) SNV
Germline		 Chr3:48572941 Pathogenic Nonsyndromic congenital nail disorder 8
Transient bullous dermolysis of the newborn
Epidermolysis bullosa pruriginosa, autosomal dominant		 No Assertion Criteria Provided
 CA127192 rs_121912834

1 SubmittersRCV000018985RCV000018984RCV000018986
NM_000094.4(COL7A1):c.6724G>A (p.Gly2242Arg) SNV
Germline		 Chr3:48573047 Pathogenic Epidermolysis bullosa pruriginosa, autosomal dominant
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127194 rs_121912837

3 SubmittersRCV000018989RCV003441721
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter) SNV
Germline		 Chr3:48581271 Pathogenic Epidermolysis bullosa pruriginosa, autosomal recessive
Condition: not provided
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127199 rs_121912847

5 SubmittersRCV000019005RCV000388576RCV001272359RCV002276565
NM_000094.4(COL7A1):c.6218G>T (p.Gly2073Val) SNV
Germline		 Chr3:48575125 Pathogenic Epidermolysis bullosa pruriginosa, autosomal dominant No Assertion Criteria Provided
 CA127202 rs_121912848

1 SubmittersRCV000019006
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) SNV
Germline		 Chr3:48575218 Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive
14 conditions
Abnormal blistering of the skin
Condition: not provided
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Generalized dominant dystrophic epidermolysis bullosa
COL7A1-related disorder
7 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127208 rs_121912855

12 SubmittersRCV000019015RCV000414882RCV000626608RCV000498291RCV001199071RCV001352770RCV002276566RCV001251179RCV003924844RCV002496411
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) SNV
Germline		 Chr3:48593538 Pathogenic Epidermolysis bullosa pruriginosa, autosomal recessive
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa
7 conditions
Condition: not provided
Skin erosion
Abnormality of the skin
Nail dystrophy
Epidermolysis bullosa dystrophica
Anonychia
Epidermolysis bullosa pruriginosa
COL7A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA128526 rs_121912856

16 SubmittersRCV000018978RCV000018977RCV000022479RCV000760149RCV000763517RCV000494404RCV000626605RCV000779415RCV000626606RCV001197324RCV004751221
NM_000094.4(COL7A1):c.4818+18T>A SNV
Germline		 Chr3:48581430 Conflicting classifications of pathogenicity not specified
Epidermolysis bullosa pruriginosa
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2379828 rs_368227259

4 SubmittersRCV000248747RCV001199069RCV001668406
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) SNV
Germline		 Chr3:48590721 Pathogenic Condition: not provided
7 conditions
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica
COL7A1-related disorder
Generalized dominant dystrophic epidermolysis bullosa
See cases
Epidermolysis bullosa pruriginosa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2381135 rs_144023803

10 SubmittersRCV000413975RCV000763514RCV000578166RCV000779414RCV004751509RCV003318572RCV004584380RCV004816640
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=) SNV
Germline		 Chr3:48570639 Pathogenic Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Epidermolysis bullosa pruriginosa, autosomal recessive
Condition: not provided
7 conditions
Epidermolysis bullosa dystrophica inversa, autosomal recessive
COL7A1-related disorder
Recessive dystrophic epidermolysis bullosa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2378563 rs_201728948

7 SubmittersRCV000018980RCV000018981RCV000414113RCV000763112RCV001275769RCV004751510RCV005355702
NM_000094.4(COL7A1):c.8047G>A (p.Gly2683Ser) SNV
Unknown		 Chr3:48567190 Likely pathogenic Finger syndactyly
Toe syndactyly
Short stature
Palmoplantar blistering
Epidermolysis bullosa pruriginosa		 Criteria Provided
Single Submitter
 CA16043399 rs_1057518863

1 SubmittersRCV000415010RCV001198317
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) SNV
Germline		 Chr3:48590258 Pathogenic Toe syndactyly
Short stature
Palmoplantar blistering
Finger syndactyly
Anonychia
Condition: not provided
Abnormal blistering of the skin
Recessive dystrophic epidermolysis bullosa
Abnormality of the skin
Nail dystrophy
Skin erosion
7 conditions
Epidermolysis bullosa pruriginosa
COL7A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2381040 rs_780261665

9 SubmittersRCV000415386RCV000626603RCV000485192RCV000626602RCV001273337RCV000626601RCV002481285RCV001198316RCV004751512
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter) SNV
Germline		 Chr3:48568137 Pathogenic Condition: not provided
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16617979 rs_1064793916

6 SubmittersRCV000480187RCV001833608RCV002250637RCV002463680
NM_000094.4(COL7A1):c.5532+1G>A SNV
Germline		 Chr3:48578320 Pathogenic/Likely pathogenic Epidermolysis bullosa pruriginosa, autosomal recessive
Condition: not provided
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica inversa, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2379463 rs_767182886

5 SubmittersRCV000018990RCV000579227RCV000626021RCV001272354
NM_000094.4(COL7A1):c.8101G>T (p.Gly2701Trp) SNV
Unknown		 Chr3:48567136 Likely pathogenic Recessive dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa		 Criteria Provided
Single Submitter
 CA352640428 rs_1575418015

1 SubmittersRCV000991328
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln) SNV
Germline		 Chr3:48566730 Likely pathogenic Epidermolysis bullosa pruriginosa
Recessive dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Epidermolysis bullosa pruriginosa
Condition: not provided
7 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2378111 rs_377182638

5 SubmittersRCV000993563RCV001278912RCV004698349RCV003736953RCV005029550
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) SNV
Germline		 Chr3:48584763 Pathogenic Condition: not provided
Transient bullous dermolysis of the newborn
7 conditions
Pretibial dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
Nonsyndromic congenital nail disorder 8
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa dystrophica		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2380267 rs_761927109

6 SubmittersRCV001072052RCV002249671RCV002482148RCV005359851RCV001833679
NM_000094.4(COL7A1):c.8156G>A (p.Gly2719Asp) SNV
Unknown		 Chr3:48566977 Pathogenic Epidermolysis bullosa pruriginosa Criteria Provided
Single Submitter
 CA352639976 rs_1164917118

1 SubmittersRCV001197904
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter) SNV
Germline		 Chr3:48567184 Pathogenic Epidermolysis bullosa pruriginosa
Condition: not provided
COL7A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA352640761 rs_2043645754

4 SubmittersRCV001199217RCV001204526RCV004528411
NM_000094.4(COL7A1):c.4048-1G>T SNV
Germline		 Chr3:48584557 Pathogenic Epidermolysis bullosa pruriginosa
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA352696270 rs_2045079112

2 SubmittersRCV001197322RCV005094057
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter) SNV
Germline		 Chr3:48572156 Pathogenic Condition: not provided
Epidermolysis bullosa dystrophica
7 conditions
Epidermolysis bullosa pruriginosa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2378732 rs_765027608

6 SubmittersRCV001218750RCV001828739RCV005036479RCV004789480
NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter) SNV
Germline		 Chr3:48564798 Conflicting classifications of pathogenicity Epidermolysis bullosa pruriginosa
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2377873 rs_767051948

2 SubmittersRCV001580584RCV002538427
NM_000094.4(COL7A1):c.5765G>T (p.Gly1922Val) SNV
Germline		 Chr3:48576407 Likely pathogenic Epidermolysis bullosa pruriginosa Criteria Provided
Single Submitter
 CA352666449 rs_2107680342

1 SubmittersRCV001594415
NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser) SNV
Germline		 Chr3:48576708 Likely pathogenic Pretibial dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa
Recessive dystrophic epidermolysis bullosa		 Criteria Provided
Single Submitter
 CA352667779 rs_2107682264

1 SubmittersRCV005252122
NM_000094.4(COL7A1):c.3595C>T (p.Gln1199Ter) SNV
Germline		 Chr3:48586202 Likely pathogenic Recessive dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa
Transient bullous dermolysis of the newborn		 Criteria Provided
Single Submitter
 CA352703630 rs_1276620073

1 SubmittersRCV003323340