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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMB3
(R635*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
LAMB3
Insertion
Junctional epidermolysis bullosa gravis of Herlitz
GPathogenic
LAMB3
(Q243*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+2 more
GPathogenic/Likely pathogenic
LAMB3
(R42*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta type 1A
+4 more
GPathogenic
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