Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1210666598
rs1210666598
COL17A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80356682
rs80356682
LAMB3
0.040 GeneticVariation BEFREE In this report, we describe a patient with Herlitz JEB in whom DNA analysis revealed homozygosity for the recurrent nonsense mutation R635X in LAMB3, located on chromosome 1q32.2. 15663509

2005
dbSNP: rs80356682
rs80356682
LAMB3
0.040 GeneticVariation BEFREE Recently, one particular mutation, R635X in the LAMB3 gene, has been found to account for approximately 40% of all JEB laminin 5 mutations (Kivirikko et al., Hum Mol Genet 1996; 5: 231-7). 9205497

1997
dbSNP: rs80356682
rs80356682
LAMB3
0.040 GeneticVariation BEFREE Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. 9242513

1997
dbSNP: rs80356682
rs80356682
LAMB3
0.040 GeneticVariation BEFREE Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa. 9209887

1997
dbSNP: rs1168634503
rs1168634503
LAMC2
0.010 GeneticVariation BEFREE Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa. 24533970

2014
dbSNP: rs1181742615
rs1181742615
LAMA3
0.010 GeneticVariation BEFREE This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R1159X), but was rescued by spontaneous read-through of the R943X allele. 21693480

2011
dbSNP: rs998162536
rs998162536
LAMA3
0.010 GeneticVariation BEFREE This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R1159X), but was rescued by spontaneous read-through of the R943X allele. 21693480

2011
dbSNP: rs121912773
rs121912773
COL17A1
0.010 GeneticVariation BEFREE The mutation occurred in a junctional epidermolysis bullosa patient who was compound heterozygous for the novel glycine substitution mutation G633D and the novel nonsense mutation R145X. 10951237

2000
dbSNP: rs121912774
rs121912774
COL17A1
0.010 GeneticVariation BEFREE The mutation occurred in a junctional epidermolysis bullosa patient who was compound heterozygous for the novel glycine substitution mutation G633D and the novel nonsense mutation R145X. 10951237

2000
dbSNP: rs121912482
rs121912482
LAMB3
0.010 GeneticVariation BEFREE As the third patient is a young child with fewer features of this subtype to date, identification of E210K in combination with a nonsense LAMB3 mutation may be predictive of the subsequent development of a generalized atrophic benign EB phenotype both in this child and in other junctional EB patients with the E210K mutation. 9767254

1998
dbSNP: rs121912771
rs121912771
COL17A1
0.010 GeneticVariation BEFREE All patients carried novel homozygous point mutations (Q1016X, R1226X, and R1303Q) in the COL17A1 gene encoding collagen XVII, a hemidesmosomal transmembrane component; and, therefore, not only GABEB but also the localisata JEB can be a collagen XVII disorder. 9199555

1997