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Items: 1 to 100 of 606

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMC2
(S635*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
Single nucleotide variant
(splice acceptor variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(C65*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMA3
Single nucleotide variant
(splice donor variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3, LOC126805999
Single nucleotide variant
(splice donor variant)
Junctional epidermolysis bullosa gravis of Herlitz
GUncertain significance
LAMC2
(A443fs)
Insertion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(N59fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
(L149fs)
Indel
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMC2
(W902*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(K982*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(K919*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(A491fs)
Insertion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(R917fs)
Indel
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(A374fs)
Insertion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
(F327fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMC2
(K989*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(C84*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
(D903fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMC2
(Q788fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(A878fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(N739fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(K636fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(E335*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
(A129fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMC2
(H285fs)
Insertion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(S791*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
(E479*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMC2
(Y450fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(G913fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
(V753fs)
Insertion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMC2
(C309*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(K824*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(N574fs)
Indel
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(W218fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(A967fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
(Q893fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic
LAMC2
(G599fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(G860*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
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
LAMC2
(S745*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
Insertion
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
Deletion
(splice donor variant)
Junctional epidermolysis bullosa gravis of Herlitz
GPathogenic
LAMB3
(M1L)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
(W143*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GPathogenic/Likely pathogenic
LAMB3
(I208fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GPathogenic/Likely pathogenic
LAMA3
(R1103* +3 more)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa, junctional 2B, severe
GPathogenic
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
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
(Q568*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GPathogenic/Likely pathogenic
LAMC2
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GLikely pathogenic
LAMB3
(Q586*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+1 more
GLikely pathogenic
LAMA3
(G778R)
Single nucleotide variant
(missense variant)
Laryngo-onycho-cutaneous syndrome
+3 more
GUncertain significance
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