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Links from MedGen

Items: 1 to 100 of 376

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA3, LOC126862707
(Q24fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
LAMA3
Single nucleotide variant
(splice donor variant)
Junctional epidermolysis bullosa
GLikely pathogenic
LAMB3
(C293S)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
+1 more
GPathogenic/Likely pathogenic
LAMA3
(G1958* +1 more)
Single nucleotide variant
(nonsense +1 more)
Junctional epidermolysis bullosa
GLikely pathogenic
LAMA3
Single nucleotide variant
(splice acceptor variant)
Junctional epidermolysis bullosa
GLikely pathogenic
LAMB3
(C355R)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
+1 more
GPathogenic/Likely pathogenic
LAMA3
(K1254* +3 more)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+1 more
GPathogenic
LAMC2
(Q961*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+1 more
GPathogenic/Likely pathogenic
LAMB3
(I208fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GPathogenic/Likely pathogenic
LAMA3
(R2346* +3 more)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+1 more
GPathogenic
LAMC2
(R349*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+1 more
GPathogenic
LAMA3
(G1849fs +1 more)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa
+1 more
GPathogenic
LAMB3
(Q586*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+1 more
GLikely pathogenic
LAMC2
(Q692*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+1 more
GPathogenic
LAMC2
Single nucleotide variant
(splice acceptor variant)
Junctional epidermolysis bullosa
GPathogenic
LAMC2
Deletion
(splice donor variant)
Junctional epidermolysis bullosa
GPathogenic
LAMC2
(G127W)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GPathogenic
ITGA6
(S310* +1 more)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
GPathogenic
COL17A1
Single nucleotide variant
(splice donor variant)
Junctional epidermolysis bullosa
+1 more
GPathogenic
COL17A1
(G1277fs)
Insertion
(frameshift variant)
Junctional epidermolysis bullosa
GPathogenic
COL17A1
(G1277fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa
GPathogenic
COL17A1
Single nucleotide variant
(splice donor variant)
Junctional epidermolysis bullosa
+1 more
GPathogenic/Likely pathogenic
COL17A1
(G866R)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GPathogenic
COL17A1
(G860fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa
GPathogenic
COL17A1
(Q525fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa
GPathogenic
LAMA3
(A1621S +3 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GPathogenic
LAMA3
(E2061fs +3 more)
Indel
(frameshift variant)
Junctional epidermolysis bullosa
GPathogenic
LAMA3
Single nucleotide variant
(splice acceptor variant)
Junctional epidermolysis bullosa
GPathogenic
LAMB3
(E683fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa
GPathogenic
LAMB3
(G545fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa
GPathogenic
LAMB3
(L108P)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GPathogenic
LAMC2
(V1115fs)
Microsatellite
(frameshift variant)
Junctional epidermolysis bullosa
GPathogenic
COL17A1
(G1181fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa
+1 more
GPathogenic/Likely pathogenic
LAMB3
(E446*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LAMB3
(W143*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+1 more
GPathogenic
LAMB3
(R430C)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(P443L)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
+1 more
GUncertain significance
LAMB3
(D484Y)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(F506I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMC2
(L852P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMC2
(L849F)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
(R843S)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
LAMC2
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMB3
(R1009W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
LAMB3
(V1021L)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2, LOC126805948
Single nucleotide variant
(5 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(S236T)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
+1 more
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GBenign
LOC126805999, LAMB3
Single nucleotide variant
(5 prime UTR variant)
Amelogenesis imperfecta type 1A
+3 more
GUncertain significance
LAMB3, LOC126805999
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GLikely benign
LAMB3
(G287S)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
(R1150C)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(S512R)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(T529I)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMC2
(R533W)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
(R197H)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
LAMC2
(R154H)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(R1051Q)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(V1108G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(Y27H)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(R81Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GLikely benign
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GBenign
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(A305V)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
+1 more
GUncertain significance
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMB3
(P583H)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
(C519R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMC2
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
LAMC2
(G420A)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(Q880H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMB3
(R889W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMB3
(A1139V)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GLikely benign
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
LAMB3
(R159W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GBenign
LAMC2
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(D384G)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
(R926H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
LAMC2
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(R598H)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
(S657Y)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
(L346V)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
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