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Items: 4

  • The following term was not found in ClinVar: Ochna.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMC2
(R95*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GPathogenic
LAMB3
(Q936*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LAMB3
(R635*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa
+4 more
GPathogenic
LAMB3
(R42*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+3 more
GPathogenic
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