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Items: 1 to 100 of 340

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMB3
Single nucleotide variant
(splice acceptor variant)
Junctional epidermolysis bullosa, non-Herlitz type
GLikely pathogenic
LAMB3
(N494K)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
LAMB3
(C325fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa, non-Herlitz type
GLikely pathogenic
COL17A1
Single nucleotide variant
(splice acceptor variant)
Junctional epidermolysis bullosa, non-Herlitz type
GLikely pathogenic
LAMB3
(Y297*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
GLikely pathogenic
LAMB3
(W470*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMB3
(C546fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa, non-Herlitz type
+1 more
GPathogenic
LAMB3
(L149fs)
Indel
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(A926fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(A828fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(M127fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(Y148*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(S776*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(Y722*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(F327fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(D903fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(S865fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(H75fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(E934fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(L41fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(K402*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(A129fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(K141*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(Y27*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(H253fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(R440fs)
Indel
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(E479*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(V753fs)
Insertion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(D626fs)
Indel
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(Q1012fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(Q166fs)
Indel
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(E1076*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(Q697fs)
Indel
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(H80fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(P177fs)
Indel
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(Q808fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(Q893fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(T285fs)
Insertion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMB3
(C26fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMA3
(V1102fs +3 more)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa, non-Herlitz type
GLikely pathogenic
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
LAMC2
(C550*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
GPathogenic
LAMB3
Single nucleotide variant
(splice donor variant)
Junctional epidermolysis bullosa, non-Herlitz type
+2 more
GLikely pathogenic
COL17A1
(G627fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL17A1
(S170*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
GLikely pathogenic
COL17A1
(E1199*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
GLikely pathogenic
LAMC2
(I348fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa, non-Herlitz type
GPathogenic
LAMC2
(Q1151*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
GPathogenic
LAMB3
(Q1083*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
GPathogenic
ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa, non-Herlitz type
+3 more
GBenign
GALK1, ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa, non-Herlitz type
+3 more
GBenign
COL17A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
COL17A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
LAMC2
(D272G)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GUncertain significance
LAMC2
(E760K)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GUncertain significance
LAMB3
(P576L)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
+1 more
GUncertain significance
LAMB3
(G1003A)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GUncertain significance
LAMA3
(P280L)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GUncertain significance
LAMA3
(S1129L +3 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GUncertain significance
LAMA3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa, non-Herlitz type
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa, non-Herlitz type
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+3 more
GBenign
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+3 more
GBenign
LAMC2
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GBenign
LAMC2
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GBenign
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa, non-Herlitz type
+3 more
GBenign
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa, non-Herlitz type
+3 more
GBenign
LAMB3
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
LAMA3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+3 more
GBenign
COL17A1
(Y1347*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
GPathogenic
GALK1, ITGB4
(R1485Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
LAMA3
(P1208T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
LAMB3
Single nucleotide variant
(splice acceptor variant)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GPathogenic
LAMB3
(R878C)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GUncertain significance
LAMB3
(R988Q)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta type 1A
+3 more
GUncertain significance
LAMA3
(L745M +3 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
COL17A1
(R169*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
GPathogenic
LAMA3
(S3261G +3 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
+1 more
GUncertain significance
LAMB3
(E647*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GPathogenic
COL17A1
Single nucleotide variant
(synonymous variant)
COL17A1-related disorder
+2 more
GBenign/Likely benign
COL17A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL17A1
(G95V)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
COL17A1
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
COL17A1
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa, non-Herlitz type
+1 more
GConflicting classifications of pathogenicity
COL17A1
(A732T)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
+1 more
GUncertain significance
COL17A1
(R1260C)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
COL17A1
(I1263T)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
+1 more
GUncertain significance
COL17A1
(S1289G)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
COL17A1
(G1319S)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
COL17A1
(A1331G)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
COL17A1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa, non-Herlitz type
GUncertain significance
COL17A1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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